IMMUNOLOGY

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, C3 DEFICIENCY, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, ?IMMUNODEFICIENCY 16, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 44, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], KAPPA LIGHT CHAIN DEFICIENCY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, WISKOTT-ALDRICH SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, AGAMMAGLOBULINEMIA, X-LINKED 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ATELEIOTIC DWARFISM, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

FASLG, NGF, PRKCD, IL10, IL17RA, EGFR, CREBBP, IRF5, FAS, IFNAR2, IKBKG, CXCR4, CD40LG, IRF7, NTRK1, HAX1, NFKB1, THBD, LEP, FOXP3, PIK3CD, MTOR, TNFRSF4, FADD, CD27, TPI1, PRKDC, ATM, IL4R, B2M, C2, WAS, NFKBIA, IL21R, STAT1, C1R, TBX21, BCL10, CASP8, ADAM17, IL21, C3, IL12B, KRAS, GH1, IRF8, CD40, STAT3, STAT2, BTK, TYK2, IGKC, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {PSORIASIS SUSCEPTIBILITY 1}, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, C3 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, COMPLEMENT FACTOR I DEFICIENCY, MASP2 DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, C1R/C1S DEFICIENCY, COMBINED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME, COMPLEMENT FACTOR D DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

NGF, CASP8, C1QC, IL12B, C1R, CD40LG, IGKC, CD46, LEP, ITGB2, CFB, ELANE, C2, CFI, HLA-C, MASP2, C3, EGFR, HNF1A, ADA, SERPING1, CREBBP, CD40, SELP, CFD, HLA-DQA1, INS, STAT3, MTOR

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, IMMUNODEFICIENCY 42, C3 DEFICIENCY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, WHIM SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SMITH-KINGSMORE SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, COMPLEMENT FACTOR I DEFICIENCY, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, C1R/C1S DEFICIENCY, COMBINED, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, RHEUMATOID ARTHRITIS, LEUKOCYTE ADHESION DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MASP2 DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 36, HYPERTHYROIDISM, NONAUTOIMMUNE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, COMPLEMENT FACTOR D DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

FASLG, NGF, PRKCD, CASP8, EGFR, C1QC, FAS, CASP10, RORC, CIITA, FERMT3, CXCR4, CD40LG, CARD11, IL12B, CFB, NFKB1, CD46, LEP, NTRK1, MTOR, ITGB2, C1QA, GFPT1, ELANE, PRKDC, CFD, PSMB8, HLA-DQA1, C2, CFI, C1QB, STAT1, MBL2, C1R, STX11, MASP2, ADAM17, C3, SMAD9, HLA-C, HNF1A, TSHR, ADA, SERPING1, CREBBP, CD40, SELP, STAT3, STAT2, MALT1, NFKBIL1, INS, RBPJ, IGKC, PIK3R1

IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?CHARGE SYNDROME, CHARGE SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CANDIDIASIS, FAMILIAL, 9, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, [BLOOD GROUP, DUFFY SYSTEM], SPLENIC HYPOPLASIA, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 16, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, AGAMMAGLOBULINEMIA 3, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, NIEMANN-PICK DISEASE, TYPE A, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY 14, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, BERGER DISEASE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?IMMUNODEFICIENCY 13, AGAMMAGLOBULINEMIA 6, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ?CANDIDIASIS, FAMILIAL, 8, LYMPHOPROLIFERATIVE SYNDROME 2, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

C3AR1, CD3D, FAS, SEMA3E, IKBKG, IRF7, INSR, MC2R, SMPD1, BTK, IL4R, RANBP2, IL21R, GATA2, TFRC, FOXN1, CREBBP, CD79B, HLA-DQA1, IL2RG, CD81, KRAS, HTR1A, IL10, CASP8, EGFR, NKX2-5, CD40, IFNAR2, CD79A, CD8A, CIITA, IL21, CD3E, LEP, PIK3CD, ICOS, CD247, CD27, HLA-DRB1, IRF8, C3, RBPJ, TMEM173, TNFRSF4, TSHR, IL7R, WAS, TYK2, INS, IFNGR1, RORC, PIGR, FASLG, UNC119, DKC1, SLC35A2, IL2RA, BLNK, IL12RB1, CD40LG, NFKB2, FOXP3, ITGB2, TRAC, PRKDC, ACKR1, HLA-DQB1, TBX21, IGKC, ITPR3, THBD, STAT2, ELANE, TLR2, LCK, NRAS, IFNGR2, NGF, PRKCD, B2M, IL17RA, CD46, PTGER2, NTRK1, TRAF3IP2, IL17RC, ATM, JAK3, IL12B, STAT1, NFKB1, STAT3, CD19, FADD, BLM, CXCR4, FCGR2B, PTPRC, PLCG2, DEAF1, CD3G, RPL11, PDGFRA, STX11, ADAM17, ABCC8, HLA-C, DNMT3B, ADA, SELP, ZAP70, IKBKB, CR2, MTOR, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, AGAMMAGLOBULINEMIA 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, C3 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, MASP2 DEFICIENCY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SMITH-KINGSMORE SYNDROME, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, TRICHOHEPATOENTERIC SYNDROME 1, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], IMMUNODEFICIENCY 36, NETHERTON SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, C4A DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, COMPLEMENT FACTOR D DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

NGF, IL2RA, IL10, CASP8, SPINK5, CD79A, CD40LG, TTC37, IGKC, STAT3, IRF3, LEP, ITGB2, ELANE, CFD, B2M, CD27, C4A, STAT1, MASP2, ADAM17, C3, EGFR, TSHR, SERPING1, CREBBP, CD40, SELP, CD79B, INS, MTOR, PIK3R1

IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, SPLENIC HYPOPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, ADAMS-OLIVER SYNDROME 3, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 44, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

STAT1, NGF, NFKB1, NKX2-5, CREBBP, STAT3, STAT2, INS, RBPJ, CIITA, GATA2

IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?IMMUNODEFICIENCY 45, WHIM SYNDROME, IMMUNODEFICIENCY 30, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, [BLOOD GROUP, DUFFY SYSTEM], IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYELOPEROXIDASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36

CXCR4, IL10, IL12B, C2, PIK3R1, LEP, IRF8, ACKR1, HAX1, NFKB1, IL2RA, STAT1, IL17RA, INS, STAT3, IL12RB1, IL2RG, IFNAR2, MPO, IFNGR1, ELANE

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, NIEMANN-PICK DISEASE, TYPE A, HYPER-IGE RECURRENT INFECTION SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, MANNOSIDOSIS, BETA, LEPRECHAUNISM, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, WHIM SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PEELING SKIN SYNDROME 1, ?IMMUNODEFICIENCY 39, MASP2 DEFICIENCY, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY, COMMON VARIABLE, 3, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AGAMMAGLOBULINEMIA 3, TRICHOHEPATOENTERIC SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, INTRINSIC FACTOR DEFICIENCY, {LEPROSY, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HYPERTHYROIDISM, NONAUTOIMMUNE, C4A DEFICIENCY, IMMUNODEFICIENCY 43, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

LCK, FCGR2A, NCF1, CYBA, GIF, SLC35A2, MANBA, CASP8, FCN3, CD79A, ATM, CD40LG, IRF7, KRAS, SMPD1, SMAD9, HAX1, GCK, INSR, THBD, LEP, GFPT1, CDSN, CXCR4, COPA, B2M, MAN2B1, C4A, FASLG, MASP2, MBL2, CUBN, CD19, EGFR, TSHR, SELP, TLR2, STAT3, PTPRC, INS, RBPJ, ALG13, SKIV2L

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, MYASTHENIC SYNDROME, CONGENITAL, 10, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {HASHIMOTO THYROIDITIS}, AGAMMAGLOBULINEMIA, X-LINKED 1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, BERGER DISEASE, GRISCELLI SYNDROME, TYPE 3, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SPLENIC HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CD8 DEFICIENCY, FAMILIAL, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 44, DYSKERATOSIS CONGENITA, X-LINKED, KENNY-CAFFEY SYNDROME, TYPE 1, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, IMMUNODEFICIENCY 33, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, GRISCELLI SYNDROME, TYPE 1, NIEMANN-PICK DISEASE, TYPE A, TIMOTHY SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, ?IMMUNODEFICIENCY 45, MYASTHENIC SYNDROME, CONGENITAL, 5, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?CHARGE SYNDROME, CHARGE SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, C4A DEFICIENCY, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 38, BRANCHIOOCULOFACIAL SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, DIAMOND-BLACKFAN ANEMIA 7, GRISCELLI SYNDROME, TYPE 2, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY 36, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CHEDIAK-HIGASHI SYNDROME, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, SMITH-KINGSMORE SYNDROME

CCBE1, CYBA, TPI1, FAS, CD8A, IKBKG, MS4A2, RAB27A, IRF7, GCK, COLQ, BTK, B2M, RANBP2, NBN, NCF4, TFRC, ERCC2, CECR1, CREBBP, RBPJ, DOK7, KRAS, COPA, CASP8, NKX2-5, CD40, IRF5, IFNAR2, IL12B, MYO5A, PTRF, BUB1B, CIITA, CORO1A, CD3E, LEP, PIK3CD, GFPT1, IL10, CD247, NFKBIA, C4A, CD40LG, VPS33B, MLPH, IRF8, NCF2, TMEM173, TSHR, AICDA, WAS, TYK2, INS, ABCC8, RORC, MALT1, FASLG, NCF1, DKC1, SMPD1, BLNK, STAT1, CHD7, NFKB2, FOXP3, ITGB2, CYBB, TRAC, PRKDC, CARD11, HLA-C, IKBKB, RPSA, SCN1A, GFI1, HAX1, HNF1A, GH1, TFAP2A, PTPN22, STAT2, ELANE, TLR2, LCK, ISG15, NGF, PRKCD, GJB2, CASP10, BCL10, LYST, RFXANK, ATM, JAK3, AP3B1, IRF3, NFKB1, STAT3, TBCE, CACNA1C, INSR, FADD, BLM, CXCR4, PTPRC, RPL11, TNFAIP3, PDGFRA, ADAM17, CTLA4, EGFR, DNMT3B, ADA, SELP, ZAP70, CFD, PIGR, MTOR, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 14, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, NIEMANN-PICK DISEASE, TYPE A, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SELECTIVE T-CELL DEFECT, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, DYSKERATOSIS CONGENITA, X-LINKED, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, IMMUNODEFICIENCY 44, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, ADAMS-OLIVER SYNDROME 3, ATELEIOTIC DWARFISM, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, RHEUMATOID ARTHRITIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, AGAMMAGLOBULINEMIA, X-LINKED 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, SMITH-KINGSMORE SYNDROME, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FASLG, C3AR1, XRCC4, SMPD1, IL10, CASP8, CREBBP, IRF5, IFNAR2, FERMT3, ATM, ACP5, IRF3, LEP, INSR, DKC1, PIK3CD, DSG1, BTK, HELLS, TPI1, PRKDC, COPA, PLCG2, STAT1, EGFR, ERCC2, ZAP70, PTPN22, STAT3, STAT2, G6PC3, PTPRC, INS, RBPJ, MTOR, PIK3R1

IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?CHARGE SYNDROME, CHARGE SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CANDIDIASIS, FAMILIAL, 9, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NIEMANN-PICK DISEASE, TYPE A, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, BERGER DISEASE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, [BLOOD GROUP, DUFFY SYSTEM], SPLENIC HYPOPLASIA, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 16, TRANSCOBALAMIN II DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, ?CANDIDIASIS, FAMILIAL, 8, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, GRISCELLI SYNDROME, TYPE 1, AGAMMAGLOBULINEMIA 6, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?IMMUNODEFICIENCY 13, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, IMMUNODEFICIENCY 46, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

C3AR1, CD3D, FAS, CD8A, IKBKG, IRF7, MYO5A, INSR, DSG1, SMPD1, BTK, IL4R, RANBP2, IL21R, TFRC, NCF4, PRF1, FOXN1, CREBBP, CD79B, HLA-DQA1, IL2RG, RBPJ, KRAS, HTR1A, IL10, CASP8, EGFR, NKX2-5, CD40, IRF5, IFNAR2, CD79A, SEMA3E, CIITA, IL21, HLA-DRB1, CD3E, LEP, PIK3CD, COPA, NFKBIA, ICOS, CD247, CD27, MC2R, VPS33B, IRF8, C3, CD81, TMEM173, TNFRSF4, TSHR, IL7R, STAT3, TYK2, INS, IFNGR1, RORC, MALT1, FASLG, NCF1, UNC119, DKC1, SLC35A2, IL2RA, BLNK, SMAD9, IL12RB1, CD40LG, NFKB2, FOXP3, MTOR, ITGB2, ELANE, PRKDC, ACKR1, HLA-DQB1, TBX21, IGKC, GJB2, ITPR3, THBD, STAT2, TRAC, TLR2, SH2D1A, LCK, NRAS, IFNGR2, NGF, PRKCD, B2M, IL17RA, CD46, PTGER2, NTRK1, TRAF3IP2, IL17RC, ATM, JAK3, IL12B, STAT1, NFKB1, WAS, CD19, FADD, BLM, CXCR4, FCGR2B, PTPRC, PLCG2, DEAF1, CD3G, SP110, RPL11, PDGFRA, STX11, ADAM17, TCN2, ABCC8, HLA-C, DNMT3B, ADA, SELP, ZAP70, IKBKB, CR2, PIGR, GATA2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, ATAXIA-TELANGIECTASIA, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, C3 DEFICIENCY, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 45, WHIM SYNDROME, ?IMMUNODEFICIENCY 16, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 44, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA 4, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 36

FASLG, PRKCD, B2M, CASP8, EGFR, CREBBP, FAS, IFNAR2, CD79A, CXCR4, CD40LG, IRF7, IL12B, NFKB2, THBD, IL21, LEP, FOXP3, TNFRSF4, FADD, CD27, TPI1, ATM, IL10, C2, NFKBIA, IL21R, STAT1, C1R, TBX21, BLNK, IL17RA, GATA2, C3, C1QA, HLA-C, HAX1, SELP, CD40, STAT3, STAT2, INS, IGKC, PIK3R1

IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?CHARGE SYNDROME, CHARGE SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CANDIDIASIS, FAMILIAL, 9, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NIEMANN-PICK DISEASE, TYPE A, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY 19, LEPRECHAUNISM, [BLOOD GROUP, DUFFY SYSTEM], SPLENIC HYPOPLASIA, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 16, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, KAPPA LIGHT CHAIN DEFICIENCY, ?CANDIDIASIS, FAMILIAL, 8, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, AGAMMAGLOBULINEMIA 6, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, BERGER DISEASE, INTRINSIC FACTOR DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}, COMPLEMENT FACTOR H DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, HYPERTHYROIDISM, NONAUTOIMMUNE, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?IMMUNODEFICIENCY 13, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, HYALINE FIBROMATOSIS SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, COMPLEMENT FACTOR I DEFICIENCY, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

C3AR1, CD3D, FAS, CD8A, IKBKG, IRF7, INSR, SMPD1, BTK, CFD, IL4R, RANBP2, IL21R, GATA2, TFRC, FOXN1, CREBBP, CD79B, HLA-DQA1, IL2RG, CD81, KRAS, HTR1A, IL10, CASP8, PTPRC, NKX2-5, CD40, IFNAR2, CD79A, SEMA3E, CIITA, IL21, HLA-DRB1, CFH, CD3E, LEP, PIK3CD, HAVCR1, ICOS, CD247, CD27, MC2R, C3, RBPJ, TMEM173, TNFRSF4, TSHR, IL7R, STAT3, TYK2, INS, IFNGR1, RORC, PIGR, FASLG, TNFRSF13B, UNC119, KCNJ11, DKC1, SLC35A2, IL2RA, BLNK, SMAD9, IL12RB1, CD40LG, NFKB2, FOXP3, ITGB2, ELANE, PRKDC, CFI, ACKR1, EGFR, TBX21, IGKC, RPSA, HAX1, HNF1A, CUBN, ITPR3, THBD, STAT2, TRAC, TLR2, SH2D1A, LCK, NRAS, IFNGR2, GIF, NGF, PRKCD, B2M, IL17RA, CD46, PTGER2, NTRK1, TRAF3IP2, IL17RC, ATM, JAK3, IL12B, STAT1, NFKB1, WAS, CACNA1C, CD19, FADD, CD244, BLM, CXCR4, FCGR2B, PLCG2, DEAF1, CD3G, ANTXR2, RPL11, PDGFRA, HLA-DQB1, STX11, ADAM17, ABCC8, HLA-C, DNMT3B, ADA, SELP, ZAP70, IKBKB, CR2, MTOR, PIK3R1

IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?CHARGE SYNDROME, CHARGE SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CANDIDIASIS, FAMILIAL, 9, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NIEMANN-PICK DISEASE, TYPE A, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, BERGER DISEASE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, [BLOOD GROUP, DUFFY SYSTEM], SPLENIC HYPOPLASIA, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 16, TRANSCOBALAMIN II DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, ?CANDIDIASIS, FAMILIAL, 8, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, GRISCELLI SYNDROME, TYPE 1, AGAMMAGLOBULINEMIA 6, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?IMMUNODEFICIENCY 13, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, IMMUNODEFICIENCY 46, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

C3AR1, CD3D, FAS, CD8A, IKBKG, IRF7, MYO5A, INSR, DSG1, SMPD1, BTK, IL4R, RANBP2, IL21R, TFRC, NCF4, PRF1, FOXN1, CREBBP, CD79B, HLA-DQA1, IL2RG, RBPJ, KRAS, HTR1A, IL10, CASP8, EGFR, NKX2-5, CD40, IRF5, IFNAR2, CD79A, SEMA3E, CIITA, IL21, HLA-DRB1, CD3E, LEP, PIK3CD, COPA, NFKBIA, ICOS, CD247, CD27, MC2R, VPS33B, IRF8, C3, CD81, TMEM173, TNFRSF4, TSHR, IL7R, STAT3, TYK2, INS, IFNGR1, RORC, MALT1, FASLG, NCF1, UNC119, DKC1, SLC35A2, IL2RA, BLNK, SMAD9, IL12RB1, CD40LG, NFKB2, FOXP3, MTOR, ITGB2, ELANE, PRKDC, ACKR1, HLA-DQB1, TBX21, IGKC, GJB2, ITPR3, THBD, STAT2, TRAC, TLR2, SH2D1A, LCK, NRAS, IFNGR2, NGF, PRKCD, B2M, IL17RA, CD46, PTGER2, NTRK1, TRAF3IP2, IL17RC, ATM, JAK3, IL12B, STAT1, NFKB1, WAS, CD19, FADD, BLM, CXCR4, FCGR2B, PTPRC, PLCG2, DEAF1, CD3G, SP110, RPL11, PDGFRA, STX11, ADAM17, TCN2, ABCC8, HLA-C, DNMT3B, ADA, SELP, ZAP70, IKBKB, CR2, PIGR, GATA2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ATAXIA-TELANGIECTASIA, NIEMANN-PICK DISEASE, TYPE A, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, BLOOM SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 42, IMMUNODEFICIENCY 33, WHIM SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 43, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

SMPD1, CASP8, FAS, CASP10, BCL10, ATM, STAT1, IKBKG, MTOR, FADD, BLM, PRKDC, CXCR4, B2M, NFKBIA, FASLG, TMEM173, EGFR, DNMT3B, AICDA, CD40, RORC

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, PROLIDASE DEFICIENCY, ASPARTYLGLUCOSAMINURIA, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, IMMUNODEFICIENCY 42, C3 DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, C2 DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, DYSKERATOSIS CONGENITA, X-LINKED, COMPLEMENT FACTOR I DEFICIENCY, IMMUNODEFICIENCY 44, RUBINSTEIN-TAYBI SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, WHIM SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, MASP2 DEFICIENCY, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, KAPPA LIGHT CHAIN DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPERTHYROIDISM, NONAUTOIMMUNE, C4A DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 43, COMPLEMENT FACTOR D DEFICIENCY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

FASLG, NGF, HLA-DQA1, CASP8, STX11, CD46, C1QC, FAS, CASP10, RORC, IL12B, C3, PEPD, CXCR4, CD40LG, CARD11, SMAD9, IGKC, STAT1, NFKB1, DKC1, TNFAIP3, AK2, LEP, NTRK1, MTOR, ITGB2, C1QA, GFPT1, TPI1, PRKDC, CFD, B2M, CREBBP, PSMB8, PTPRC, C2, CFI, SELP, C1QB, C4A, EGFR, MBL2, C1R, IKBKG, IRF8, MASP2, ADAM17, AGA, MALT1, HLA-C, HNF1A, DNMT3B, TSHR, ADA, SERPING1, CECR1, FERMT3, CD40, CIITA, STAT3, STAT2, ELANE, NFKBIL1, INS, RBPJ, ALG13, CFB, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, AGAMMAGLOBULINEMIA 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ATAXIA-TELANGIECTASIA, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SPLENIC HYPOPLASIA, C3 DEFICIENCY, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, RUBINSTEIN-TAYBI SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, MASP2 DEFICIENCY, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, WHIM SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NETHERTON SYNDROME, C4A DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, COMPLEMENT FACTOR D DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, SMITH-KINGSMORE SYNDROME, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

FASLG, RPSA, NGF, IL2RA, IL10, CASP8, EGFR, CFD, CD40, CD79A, ATM, CD40LG, TTC37, LEP, IKBKG, HAX1, NFKB1, STAT3, IRF3, CACNA1C, INSR, PIK3CD, MTOR, ITGB2, BTK, CD27, ELANE, CXCR4, B2M, NFKBIA, C4A, STAT1, MASP2, ADAM17, C3, CD19, IL12B, SERPING1, CREBBP, SPINK5, SELP, CD79B, TPI1, INS, RBPJ, IGKC, PIK3R1

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BARTH SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, BERGER DISEASE, RUBINSTEIN-TAYBI SYNDROME, GRISCELLI SYNDROME, TYPE 3, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, OROTIC ACIDURIA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, LEPRECHAUNISM, SPLENIC HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, {PSORIASIS SUSCEPTIBILITY 1}, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ARTS SYNDROME, IMMUNODEFICIENCY 33, WHIM SYNDROME, HYPER-IGD SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 8, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?CHARGE SYNDROME, CHARGE SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, MEVALONIC ACIDURIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OGDEN SYNDROME, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 13, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 24, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 38, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CILIARY DYSKINESIA, PRIMARY, 6, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, WISKOTT-ALDRICH SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, GRISCELLI SYNDROME, TYPE 2, BONE MARROW FAILURE SYNDROME 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, SMITH-KINGSMORE SYNDROME

CNBP, IFIH1, FAS, IKBKG, IRF7, RAB27A, MYO5A, GCK, AK2, MCM4, CTPS1, BTK, B2M, PRPS1, RANBP2, TRNT1, GATA2, NBN, NCF4, TFRC, ERCC2, HELLS, NAA10, CREBBP, UMPS, RBPJ, CHD7, KRAS, HTR1A, CASP8, CD40, ISG15, CD79A, DCLRE1C, BUB1B, CIITA, MTOR, LEP, PIK3CD, GFPT1, COPA, PSMB8, C2, NFKBIA, STAT1, VPS33B, IRF8, CLPB, NLRC4, ITK, SLC22A4, WAS, TYK2, INS, ABCC8, RORC, PIGR, FASLG, NCF1, KCNJ11, DKC1, IL2RA, NRAS, BLNK, OAS1, SMAD9, MVK, HLA-DRB1, TAZ, NFKB2, SMARCAL1, ITGB2, TRAC, PRKDC, CARD11, HLA-C, IKBKB, IGKC, RPSA, IRF5, HAX1, ITPR3, NME8, STAT2, TLR2, BCL10, LCK, DDX41, JAGN1, CORO1A, ZAP70, NGF, PRKCD, ERCC6L2, NTRK1, PEPD, ATM, JAK3, AP3B1, IL12B, IRF3, NFKB1, STAT3, SPATA5, INSR, POLE, BLM, CXCR4, RPL11, PDGFRA, RTEL1, UNC119, EGFR, DNMT3B, ADA, NHP2, VPS45, NLRP3, MLPH, SKIV2L, PIK3R1

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BARTH SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, BERGER DISEASE, GRISCELLI SYNDROME, TYPE 3, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, OROTIC ACIDURIA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, MEVALONIC ACIDURIA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, LEPRECHAUNISM, SPLENIC HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, {PSORIASIS SUSCEPTIBILITY 1}, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ARTS SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 33, WHIM SYNDROME, HYPER-IGD SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 8, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?CHARGE SYNDROME, CHARGE SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OGDEN SYNDROME, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 13, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 24, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 38, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CILIARY DYSKINESIA, PRIMARY, 6, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, WISKOTT-ALDRICH SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, GRISCELLI SYNDROME, TYPE 2, BONE MARROW FAILURE SYNDROME 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, SMITH-KINGSMORE SYNDROME

CNBP, IFIH1, FAS, IKBKG, IRF7, RAB27A, MYO5A, GCK, AK2, MCM4, CTPS1, BTK, B2M, PRPS1, RANBP2, TRNT1, GATA2, NBN, NCF4, TFRC, ERCC2, HELLS, NAA10, CREBBP, UMPS, RBPJ, CHD7, KRAS, HTR1A, CASP8, CD40, ISG15, CD79A, DCLRE1C, BUB1B, CIITA, MTOR, LEP, PIK3CD, GFPT1, COPA, PSMB8, C2, NFKBIA, STAT1, VPS33B, IRF8, CLPB, NLRC4, ITK, SLC22A4, WAS, TYK2, INS, ABCC8, RORC, PIGR, FASLG, NCF1, KCNJ11, DKC1, IL2RA, NRAS, BLNK, OAS1, SMAD9, MVK, HLA-DRB1, TAZ, NFKB2, SMARCAL1, ITGB2, TRAC, PRKDC, CARD11, HLA-C, IKBKB, IGKC, RPSA, IRF5, HAX1, ITPR3, NME8, STAT2, TLR2, BCL10, LCK, DDX41, JAGN1, CORO1A, ZAP70, NGF, PRKCD, ERCC6L2, NTRK1, PEPD, ATM, JAK3, AP3B1, IL12B, IRF3, NFKB1, STAT3, SPATA5, INSR, POLE, BLM, CXCR4, RPL11, PDGFRA, RTEL1, UNC119, PNP, EGFR, DNMT3B, ADA, NHP2, VPS45, NLRP3, MLPH, SKIV2L, PIK3R1

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, BARTH SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AGAMMAGLOBULINEMIA, X-LINKED 1, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, BERGER DISEASE, RUBINSTEIN-TAYBI SYNDROME, GRISCELLI SYNDROME, TYPE 3, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OROTIC ACIDURIA, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, ATAXIA-TELANGIECTASIA, MEVALONIC ACIDURIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 24, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, LEPRECHAUNISM, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, FOLATE MALABSORPTION, HEREDITARY, SPLENIC HYPOPLASIA, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, IMMUNODEFICIENCY 40, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, [BLOOD GROUP, DUFFY SYSTEM], HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, IMMUNODEFICIENCY 14, {PSORIASIS SUSCEPTIBILITY 1}, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, NIEMANN-PICK DISEASE, TYPE A, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, NIJMEGEN BREAKAGE SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, ARTS SYNDROME, IMMUNODEFICIENCY 33, WHIM SYNDROME, HYPER-IGD SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, JOUBERT SYNDROME 10, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 10, INTRINSIC FACTOR DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?CHARGE SYNDROME, CHARGE SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, COMPLEMENT FACTOR H DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OGDEN SYNDROME, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, ?IMMUNODEFICIENCY 13, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, PEELING SKIN SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CILIARY DYSKINESIA, PRIMARY, 6, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, GRISCELLI SYNDROME, TYPE 2, BONE MARROW FAILURE SYNDROME 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME

CYBA, CNBP, IFIH1, FAS, SEMA3E, IKBKG, IRF7, RAB27A, NBN, MYO5A, GCK, INSR, AK2, NCF4, CTPS1, CDSN, BTK, DOCK2, PRPS1, RANBP2, PRF1, MBL2, TRNT1, MPO, COG6, TFRC, ERCC2, HELLS, CECR1, NAA10, CREBBP, UMPS, RBPJ, DOK7, KRAS, NFKB2, HTR1A, COPA, CASP8, EGFR, NKX2-5, CD40, ISG15, CD79A, DCLRE1C, BUB1B, CIITA, GATA2, HLA-DRB1, NME8, LEP, PIK3CD, GFPT1, IL10, PSMB8, C2, NFKBIA, STAT1, VPS33B, IRF8, GLIS3, PDGFRA, C3, TMEM173, CLPB, NLRC4, TSHR, ITK, SLC22A4, STAT3, TYK2, INS, ABCC8, IGKC, PIGR, NCF1, STIM1, UNC119, KCNJ11, DKC1, SMPD1, IL2RA, NRAS, BLNK, OAS1, IRF5, SMAD9, MVK, CD40LG, CHD7, TAZ, RORC, CFH, SMARCAL1, FOXP3, MTOR, ITGB2, CYBB, ELANE, PRKDC, B2M, CARD11, ACKR1, HLA-C, IKBKB, RPSA, MCM4, HAX1, HNF1A, RAG2, ITPR3, THBD, STAT2, TPI1, TLR2, BCL10, LCK, DDX41, PLA2G7, CORO1A, GIF, ZAP70, NGF, PRKCD, IL4R, SLC46A1, TRAC, ERCC6L2, JAGN1, CASP10, NTRK1, PTRF, PEPD, ATM, JAK3, AP3B1, IL12B, IRF3, NFKB1, WAS, SPATA5, CACNA1C, CD19, POLE, BLM, CXCR4, FCGR2B, PLCG2, PTPRC, RPL11, OFD1, RTEL1, ADAM17, PNP, CUBN, FASLG, DNMT3B, NHP2, VPS45, SELP, NLRP3, MLPH, SKIV2L, PIK3R1

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, {PSORIASIS SUSCEPTIBILITY 1}, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, WHIM SYNDROME, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PEELING SKIN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, CDSN, IL10, HLA-C, IKBKG, CXCR4, HLA-DRB1, IRF3, STAT1, NFKB1, INSR, CD3E, LEP, NGF, TRAC, COPA, B2M, PTPRC, WAS, NFKBIA, FASLG, HLA-DQB1, IKBKB, TLR2, EGFR, TSHR, SELP, CREBBP, STAT3, BTK, HLA-DQA1, INS, RBPJ, PIK3R1

C8 DEFICIENCY, TYPE I, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CD8 DEFICIENCY, FAMILIAL, IMMUNODEFICIENCY, COMMON VARIABLE, 7, C4A DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, MASP2 DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, C3 DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

LEP, C4A, CFB, C8A, CR2, MASP2, CD46, STAT3, SERPING1, PTPRC, C3, CD8A, NGF

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II

CASP10, FADD, CASP8

IMMUNODEFICIENCY 15, ?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, LEPRECHAUNISM, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 39, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, {LEPROSY, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

FASLG, IL4R, IRF7, CD3E, CD247, NGF, ITPR3, IKBKB, CD40, CD19, EGFR, STAT3, PIK3R1, PIK3CD, NCF1, BTK, SMAD9, TLR2, NCF4, INSR

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {PSORIASIS SUSCEPTIBILITY 1}, NIEMANN-PICK DISEASE, TYPE A, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?CHARGE SYNDROME, CHARGE SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY 15, LEUKOCYTE ADHESION DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 10, SMITH-KINGSMORE SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 44, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, OMENN SYNDROME, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, AGAMMAGLOBULINEMIA 3, GRISCELLI SYNDROME, TYPE 2, {LEPROSY, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, FASLG, NCF1, DOK7, NGF, PRKCD, IL10, CASP8, CREBBP, PLA2G7, FAS, PTRF, CD79A, STAT1, CHD7, RAB27A, MTOR, NFKB1, WAS, CACNA1C, INSR, PIK3CD, ITGB2, SMPD1, TPI1, PRKDC, IL4R, HLA-C, IKBKB, GLIS3, NCF4, EGFR, RAG2, ITPR3, CD40, STAT3, STAT2, BTK, TYK2, INS, TLR2, PIK3R1

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ATAXIA-TELANGIECTASIA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, KAPPA LIGHT CHAIN DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 38, BARTH SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 44, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, BERGER DISEASE, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, GRISCELLI SYNDROME, TYPE 2, {LEPROSY, SUSCEPTIBILITY TO}, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, ?IMMUNODEFICIENCY 13, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

NRAS, IRF5, NGF, PRKCD, CIITA, ISG15, IKBKG, ATM, STAT1, MYO5A, TAZ, IL12B, IGKC, HLA-DRB1, NFKB1, WAS, IRF3, INSR, RAB27A, ITGB2, NFKBIA, B2M, HTR1A, RANBP2, HLA-C, VPS33B, STX11, UNC119, TLR2, TMEM173, EGFR, AP3B1, KRAS, VPS45, CREBBP, STAT3, STAT2, PIGR, JAGN1, INS, RBPJ, MTOR, PIK3R1

SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, AGAMMAGLOBULINEMIA, X-LINKED 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 46, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 14, HYPER-IGE RECURRENT INFECTION SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ATELEIOTIC DWARFISM, IMMUNODEFICIENCY 43, MYOTONIC DYSTROPHY 2, IMMUNODEFICIENCY 38, ?IMMUNODEFICIENCY 39, AICARDI-GOUTIERES SYNDROME 7, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 33, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

B2M, PIK3CD, PIK3R1, IRF3, XRCC4, CNBP, OAS1, TFRC, IFIH1, STAT3, BTK, IKBKG, IRF7, ISG15

INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, HYPER-IGE RECURRENT INFECTION SYNDROME, LEPRECHAUNISM, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, SELECTIVE T-CELL DEFECT, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ADAMS-OLIVER SYNDROME 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, AGAMMAGLOBULINEMIA, X-LINKED 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, IMMUNODEFICIENCY 36, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

PRKDC, FASLG, COPA, PRKCD, NGF, ITK, EGFR, PDGFRA, BTK, STAT3, PIK3R1, TYK2, JAK3, RBPJ, LCK, NTRK1, ZAP70, NCF4, INSR

{ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, IMMUNODEFICIENCY 12, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, RHEUMATOID ARTHRITIS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 37, TIMOTHY SYNDROME, COMPLEMENT FACTOR D DEFICIENCY, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, LEPRECHAUNISM, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

CCBE1, CFD, TNFAIP3, HNF1A, CARD11, PIK3R1, NGF, INSR, CASP8, CACNA1C, LEP, ELANE, IRF5, INS, FADD, BCL10, SELP, MALT1

C8 DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, MYASTHENIC SYNDROME, CONGENITAL, 10, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, C8 DEFICIENCY, TYPE II, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CANDIDIASIS, FAMILIAL, 9, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AGAMMAGLOBULINEMIA, X-LINKED 1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RUBINSTEIN-TAYBI SYNDROME, GRISCELLI SYNDROME, TYPE 3, IMMUNODEFICIENCY 43, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CD8 DEFICIENCY, FAMILIAL, IMMUNODEFICIENCY 36, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, IMMUNODEFICIENCY 40, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, IMMUNODEFICIENCY 19, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, HERMANSKY-PUDLAK SYNDROME 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, {PSORIASIS SUSCEPTIBILITY 1}, GRISCELLI SYNDROME, TYPE 1, NIEMANN-PICK DISEASE, TYPE A, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 8, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 10, IMMUNODEFICIENCY, COMMON VARIABLE, 5, ?CHARGE SYNDROME, CHARGE SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OGDEN SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, C1Q DEFICIENCY, AGAMMAGLOBULINEMIA 4, LEUKOCYTE ADHESION DEFICIENCY, PEELING SKIN SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, C3 DEFICIENCY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, AGAMMAGLOBULINEMIA 3, IMMUNODEFICIENCY 46, RIDDLE SYNDROME, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, IMMUNODEFICIENCY 20, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME

CCBE1, C3AR1, TREX1, CD3D, NAA10, FAS, FERMT3, CIITA, MS4A2, IRF7, DSG1, CDSN, BTK, DOCK2, TFRC, MS4A1, PRF1, C1QC, CREBBP, RBPJ, DOK7, KRAS, CASP8, EGFR, CD40, IRF5, IFNAR2, CD79A, CD8A, MYO5A, BUB1B, IKBKG, CORO1A, CRIPT, CD3E, LEP, PIK3CD, NLRP3, IL10, NFKBIA, STAT1, VPS33B, IRF8, C3, CD81, TSHR, STAT3, TYK2, INS, IGKC, MLPH, FCGR2A, STIM1, DKC1, SMPD1, IL2RA, BLNK, C1R, HLA-DRB1, CHD7, MTOR, ITGB2, C1QA, TRAC, PRKDC, B2M, CARD11, FASLG, IKBKB, GFI1, HAX1, HNF1A, STAT2, TLR2, LCK, NRAS, C8A, NGF, PRKCD, IL4R, BCL10, IL17RC, ATM, JAK3, AP3B1, IRF3, WAS, INSR, CXCR4, FCGR2B, PTPRC, CD3G, FCGR3A, ADAM17, HLA-C, SELP, ZAP70, RNF168, CR2, C8B, GATA2, PIK3R1

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, BARTH SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, BERGER DISEASE, RUBINSTEIN-TAYBI SYNDROME, GRISCELLI SYNDROME, TYPE 3, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, OROTIC ACIDURIA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, MEVALONIC ACIDURIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, LEPRECHAUNISM, SPLENIC HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, {PSORIASIS SUSCEPTIBILITY 1}, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ARTS SYNDROME, IMMUNODEFICIENCY 33, WHIM SYNDROME, HYPER-IGD SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, JOUBERT SYNDROME 10, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?CHARGE SYNDROME, CHARGE SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OGDEN SYNDROME, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 13, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 24, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 38, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CILIARY DYSKINESIA, PRIMARY, 6, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, WISKOTT-ALDRICH SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, GRISCELLI SYNDROME, TYPE 2, BONE MARROW FAILURE SYNDROME 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, SMITH-KINGSMORE SYNDROME

TREX1, CNBP, IFIH1, FAS, IKBKG, IRF7, RAB27A, MYO5A, GCK, AK2, MCM4, CTPS1, BTK, B2M, PRPS1, RANBP2, TRNT1, GATA2, NBN, NCF4, TFRC, ERCC2, HELLS, NAA10, CREBBP, UMPS, RBPJ, CHD7, KRAS, HTR1A, COPA, CASP8, CD40, ISG15, CD79A, DCLRE1C, BUB1B, CIITA, MTOR, LEP, PIK3CD, GFPT1, IL10, PSMB8, C2, NFKBIA, STAT1, VPS33B, IRF8, OFD1, TMEM173, CLPB, NLRC4, ITK, SLC22A4, WAS, TYK2, INS, ABCC8, RORC, PIGR, FASLG, NCF1, KCNJ11, DKC1, IL2RA, NRAS, BLNK, OAS1, SMAD9, MVK, HLA-DRB1, TAZ, NFKB2, SMARCAL1, ITGB2, TRAC, PRKDC, CARD11, HLA-C, IKBKB, IGKC, RPSA, IRF5, HAX1, ITPR3, NME8, STAT2, TPI1, TLR2, BCL10, LCK, DDX41, JAGN1, CORO1A, ZAP70, NGF, PRKCD, ERCC6L2, NTRK1, PEPD, ATM, JAK3, AP3B1, IL12B, IRF3, NFKB1, STAT3, SPATA5, INSR, POLE, BLM, CXCR4, RPL11, PDGFRA, RTEL1, UNC119, EGFR, DNMT3B, NHP2, VPS45, NLRP3, MLPH, SKIV2L, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {PSORIASIS SUSCEPTIBILITY 1}, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, C3 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, COMPLEMENT FACTOR I DEFICIENCY, MASP2 DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, C1R/C1S DEFICIENCY, COMBINED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME, COMPLEMENT FACTOR D DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

NGF, CASP8, C1QC, IL12B, C1R, CD40LG, IGKC, CD46, LEP, ITGB2, CFB, ELANE, C2, CFI, HLA-C, MASP2, C3, EGFR, HNF1A, ADA, SERPING1, CREBBP, CD40, SELP, CFD, HLA-DQA1, INS, STAT3, MTOR

IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?IMMUNODEFICIENCY 45, WHIM SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 30, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CANDIDIASIS, FAMILIAL, 9, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

IFNGR2, KRAS, IL2RA, IL4R, IL17RA, IFNAR2, IL12B, IL17RC, CXCR4, STAT1, IL21, LEP, FOXP3, IL12RB1, IL7R, IL10, IL21R, TBX21, IFNGR1, EGFR, STAT3, IL2RG, TLR2

{ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], LEUKOCYTE ADHESION DEFICIENCY, WHIM SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 7, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, ADAMS-OLIVER SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, C3 DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?IMMUNODEFICIENCY 22

CXCR4, LCK, EGFR, C3AR1, ADAM17, C3, LEP, SELP, NGF, PRKCD, CR2, INS, STAT3, FERMT3, ITGB2, CD81, RBPJ, B2M

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

ATM, FASLG, STAT1, NGF, CD40LG, CD40, CASP8, FAS, FADD

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, AGAMMAGLOBULINEMIA 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, C3 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, MASP2 DEFICIENCY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SMITH-KINGSMORE SYNDROME, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, TRICHOHEPATOENTERIC SYNDROME 1, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], IMMUNODEFICIENCY 36, NETHERTON SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, C4A DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, COMPLEMENT FACTOR D DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

NGF, IL2RA, IL10, CASP8, SPINK5, CD79A, CD40LG, TTC37, IRF3, STAT3, LEP, MTOR, ITGB2, ELANE, CFD, B2M, CD27, C4A, STAT1, MASP2, C3, EGFR, TSHR, SERPING1, CREBBP, CD40, CD79B, INS, IGKC, PIK3R1

{SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, RHEUMATOID ARTHRITIS

HLA-DRB1, HLA-DQB1, HLA-DQA1

IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, WHIM SYNDROME, ?IMMUNODEFICIENCY 39, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

CXCR4, STAT1, NFKBIA, CD40, STAT3, IRF7

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, {PSORIASIS SUSCEPTIBILITY 1}, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, WHIM SYNDROME, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PEELING SKIN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, CDSN, IL10, HLA-C, IKBKG, CXCR4, HLA-DRB1, IRF3, STAT1, NFKB1, INSR, CD3E, LEP, NGF, TRAC, COPA, B2M, PTPRC, WAS, NFKBIA, FASLG, HLA-DQB1, IKBKB, TLR2, EGFR, TSHR, SELP, CREBBP, STAT3, BTK, HLA-DQA1, INS, RBPJ, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, AGAMMAGLOBULINEMIA 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, C3 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, MASP2 DEFICIENCY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SMITH-KINGSMORE SYNDROME, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, TRICHOHEPATOENTERIC SYNDROME 1, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], IMMUNODEFICIENCY 36, NETHERTON SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, C4A DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, COMPLEMENT FACTOR D DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

NGF, IL2RA, IL10, CASP8, SPINK5, CD79A, CD40LG, TTC37, IRF3, STAT3, LEP, MTOR, ITGB2, ELANE, CFD, B2M, CD27, C4A, STAT1, MASP2, C3, EGFR, TSHR, SERPING1, CREBBP, CD40, CD79B, INS, IGKC, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, AGAMMAGLOBULINEMIA 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, C3 DEFICIENCY, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, MASP2 DEFICIENCY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NETHERTON SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, C4A DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, COMPLEMENT FACTOR D DEFICIENCY, SMITH-KINGSMORE SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 36, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

NGF, PRKCD, B2M, CASP8, CD40, FAS, CD79A, INSR, CD40LG, NLRC4, IKBKG, IGKC, STAT3, IRF3, LEP, ITGB2, ELANE, CFD, IL10, IL2RA, CD27, C4A, STAT1, MASP2, IKBKB, ADAM17, C3, EGFR, TTC37, TSHR, SERPING1, CREBBP, SPINK5, SELP, CD79B, INS, TLR2, MTOR, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, NIEMANN-PICK DISEASE, TYPE A, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, ADAMS-OLIVER SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, LEPRECHAUNISM, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ?CHARGE SYNDROME, CHARGE SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 42, C3 DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, WHIM SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, KAPPA LIGHT CHAIN DEFICIENCY, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 44, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, SPLENIC HYPOPLASIA, AGAMMAGLOBULINEMIA 3, GRISCELLI SYNDROME, TYPE 2, {LEPROSY, SUSCEPTIBILITY TO}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 36, ?IMMUNODEFICIENCY 13, HYPERTHYROIDISM, NONAUTOIMMUNE, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, OMENN SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, IMMUNODEFICIENCY 8, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35, SMITH-KINGSMORE SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, FASLG, NCF1, JAGN1, DOK7, CORO1A, SMPD1, NFKB2, PRKCD, COPA, CIITA, EGFR, NKX2-5, TPI1, IL4R, CD40, PLA2G7, FAS, PTRF, RORC, CD79A, CXCR4, CR2, CD40LG, NGF, CYBA, RAB27A, SMAD9, HAX1, HLA-DRB1, NFKB1, INSR, SPATA5, CACNA1C, LEP, PIK3CD, MTOR, ITGB2, KRAS, BTK, CYBB, ELANE, PRKDC, B2M, PTPRC, C2, IL10, PIK3R1, IGHM, STAT1, IKBKB, GLIS3, CASP8, UNC119, C3, CUBN, NCF4, CD19, TMEM173, HLA-C, HNF1A, WAS, TSHR, RAG2, ITPR3, TLR2, CREBBP, CHD7, SELP, STAT3, STAT2, TFRC, TYK2, INS, RBPJ, IGKC, MALT1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, IMMUNODEFICIENCY 14, {PSORIASIS SUSCEPTIBILITY 1}, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, NIEMANN-PICK DISEASE, TYPE A, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, BLOOM SYNDROME, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY 15, ?IMMUNODEFICIENCY 45, MYASTHENIC SYNDROME, CONGENITAL, 5, WHIM SYNDROME, SELECTIVE T-CELL DEFECT, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, IMMUNODEFICIENCY 38, {LEPROSY, SUSCEPTIBILITY TO}, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?IMMUNODEFICIENCY 39, DYSKERATOSIS CONGENITA, X-LINKED, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, IMMUNODEFICIENCY 44, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, RUBINSTEIN-TAYBI SYNDROME, ADAMS-OLIVER SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ATELEIOTIC DWARFISM, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, DIAMOND-BLACKFAN ANEMIA 7, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, AICARDI-GOUTIERES SYNDROME 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, AGAMMAGLOBULINEMIA, X-LINKED 1, SYSTEMIC LUPUS ERYTHEMATOSUS 16, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OGDEN SYNDROME, IMMUNODEFICIENCY 36, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, POIKILODERMA WITH NEUTROPENIA, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, ?IMMUNODEFICIENCY 22, OMENN SYNDROME, SMITH-KINGSMORE SYNDROME, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, C3AR1, PLA2G7, TREX1, ZAP70, SMPD1, FCGR2B, CASP8, EGFR, NAA10, BAAT, CREBBP, ISG15, IFNAR2, FERMT3, PEPD, INSR, ATM, STAT1, IRF7, DCLRE1C, BLM, SERAC1, HAX1, GCK, COLQ, TNFAIP3, IRF8, LEP, DKC1, PIK3CD, MTOR, CLPB, DSG1, BTK, HELLS, MYO5A, TPI1, PRKDC, CXCR4, COPA, RNASEH2A, PLCG2, PTPRC, DNASE1, IL10, WAS, RAG1, RPL11, HLA-C, VPS33B, USB1, TRNT1, CUBN, IRF5, FASLG, ERCC2, TLR2, XRCC4, IKBKB, PTPN22, STAT3, ACP5, STAT2, G6PC3, DNASE1L3, INS, RBPJ, SKIV2L, PIK3R1, IRF3

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 8, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 12, DIGEORGE SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GRISCELLI SYNDROME, TYPE 1, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, TIMOTHY SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?CHARGE SYNDROME, CHARGE SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPLENIC HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 33, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, LEUKOCYTE ADHESION DEFICIENCY, CD8 DEFICIENCY, FAMILIAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SELECTIVE T-CELL DEFECT, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, {PSORIASIS SUSCEPTIBILITY 1}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RUBINSTEIN-TAYBI SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, WISKOTT-ALDRICH SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRICHOHEPATOENTERIC SYNDROME 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, RHEUMATOID ARTHRITIS, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, GRISCELLI SYNDROME, TYPE 2, {LEPROSY, SUSCEPTIBILITY TO}, VELOCARDIOFACIAL SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, OGDEN SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, CHEDIAK-HIGASHI SYNDROME, ATAXIA-TELANGIECTASIA, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 19, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, SMITH-KINGSMORE SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, FASLG, NCF1, NCF2, CHD7, CORO1A, ITK, NGF, HTR1A, B2M, CASP8, CD8A, NKX2-5, SLC22A4, IRF5, FAS, CASP10, IKBKG, LYST, MS4A2, ATM, STAT1, MYO5A, CARD11, RAB27A, BCL10, HAX1, HLA-DRB1, CRIPT, WAS, CD3E, CACNA1C, INSR, PIK3CD, MTOR, ITGB2, FADD, KRAS, BTK, PRKDC, IL4R, CREBBP, CARD9, PRKCD, CYBA, RPL11, EGFR, PDGFRA, TBX21, ADAM17, GATA2, TLR2, NCF4, AIRE, HLA-C, TSHR, ERCC2, SELP, CD3D, ZAP70, FERMT3, PTPN22, CIITA, STAT3, NAA10, MALT1, TBX1, INS, DNMT3B, RBPJ, IKBKB, SKIV2L, PIK3R1

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, C1Q DEFICIENCY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 43, RUBINSTEIN-TAYBI SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AGAMMAGLOBULINEMIA 1, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 5, HYPERTHYROIDISM, NONAUTOIMMUNE, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY, COMMON VARIABLE, 3, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

LCK, IL7R, B2M, HLA-C, CREBBP, CD79A, IGHM, IKBKG, IGKC, STAT1, CD19, C1QA, TRAC, IL10, PTPRC, EGFR, HLA-DRB1, MS4A1, HLA-DQB1, TSHR, CD40, JAK3, HLA-DQA1, CD81

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 22, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 43, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}

LCK, HLA-C, B2M, HLA-DRB1, IL10, HLA-DQB1, HLA-DQA1, TRAC

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {PSORIASIS SUSCEPTIBILITY 1}, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, C3 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, COMPLEMENT FACTOR I DEFICIENCY, MASP2 DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, C1R/C1S DEFICIENCY, COMBINED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME, COMPLEMENT FACTOR D DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

NGF, CASP8, C1QC, IL12B, C1R, CD40LG, IGKC, CD46, LEP, ITGB2, CFB, ELANE, C2, CFI, HLA-C, MASP2, C3, EGFR, HNF1A, ADA, SERPING1, CREBBP, CD40, SELP, CFD, HLA-DQA1, INS, STAT3, MTOR

HYPER-IGE RECURRENT INFECTION SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 21, LEPRECHAUNISM, C3 DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, LEUKOCYTE ADHESION DEFICIENCY, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, IMMUNODEFICIENCY 10, KAPPA LIGHT CHAIN DEFICIENCY, WHIM SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 36, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY, COMMON VARIABLE, 6, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

LCK, STIM1, NGF, PRKCD, CD46, C3AR1, FERMT3, CXCR4, LEP, NFKB2, STAT3, INSR, ITGB2, DSG1, B2M, IGKC, ADAM17, C3, CD81, EGFR, SELP, ITPR3, CR2, PTPRC, INS, RBPJ, GATA2, PIK3R1

HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, C3 DEFICIENCY, WHIM SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMPLEMENT FACTOR I DEFICIENCY, RHEUMATOID ARTHRITIS, LEUKOCYTE ADHESION DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, COMPLEMENT FACTOR H DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, IMMUNODEFICIENCY 46, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 36

CXCR4, STAT1, CFI, IGKC, CFH, CREBBP, TFRC, CD46, STAT3, IL10, EGFR, ITGB2, C3, SMAD9, PIK3R1, INSR

{HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {PSORIASIS SUSCEPTIBILITY 1}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, C3 DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, WHIM SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PEELING SKIN SYNDROME 1, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AGAMMAGLOBULINEMIA 3, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], COMPLEMENT FACTOR H DEFICIENCY, MYELOPEROXIDASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPERTHYROIDISM, NONAUTOIMMUNE, IMMUNODEFICIENCY 43, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME

NGF, IL2RA, B2M, CD79A, CXCR4, STAT1, IGKC, THBD, CFH, LEP, CDSN, ELANE, FCGR2B, EGFR, C3, MPO, HLA-C, TSHR, SELP, CECR1, STAT3, PTPRC, INS, CUBN, MTOR

?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS

IFNGR1, IFNAR2, STAT1, STAT3, IFNGR2

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ATAXIA-TELANGIECTASIA, NIEMANN-PICK DISEASE, TYPE A, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, BLOOM SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 42, IMMUNODEFICIENCY 33, WHIM SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 43, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

SMPD1, CASP8, FAS, CASP10, BCL10, ATM, STAT1, IKBKG, MTOR, FADD, BLM, PRKDC, CXCR4, B2M, NFKBIA, FASLG, TMEM173, EGFR, DNMT3B, AICDA, CD40, RORC

{ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY, COMMON VARIABLE, 12, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, WHIM SYNDROME, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, RHEUMATOID ARTHRITIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, LEPRECHAUNISM, IMMUNODEFICIENCY, COMMON VARIABLE, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

CXCR4, MS4A1, IL10, ADAM17, NFKB1, NGF, IL21R, LEP, CD40, EGFR, STAT3, IL4R, PDGFRA, PIK3CD, INS, BCL10, IL12B, IL21, INSR

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BARTH SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, BERGER DISEASE, RUBINSTEIN-TAYBI SYNDROME, GRISCELLI SYNDROME, TYPE 3, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, OROTIC ACIDURIA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, MEVALONIC ACIDURIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 24, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, LEPRECHAUNISM, SPLENIC HYPOPLASIA, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, IMMUNODEFICIENCY 14, {PSORIASIS SUSCEPTIBILITY 1}, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE I, ARTS SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 33, WHIM SYNDROME, HYPER-IGD SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 8, JOUBERT SYNDROME 10, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, INTRINSIC FACTOR DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?CHARGE SYNDROME, CHARGE SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, COMPLEMENT FACTOR H DEFICIENCY, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OGDEN SYNDROME, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, ?IMMUNODEFICIENCY 13, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, PEELING SKIN SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 38, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CILIARY DYSKINESIA, PRIMARY, 6, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, WISKOTT-ALDRICH SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, GRISCELLI SYNDROME, TYPE 2, BONE MARROW FAILURE SYNDROME 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME

TREX1, CNBP, IFIH1, FAS, IKBKG, IRF7, KCNJ11, RAB27A, MPO, MYO5A, GCK, INSR, AK2, MCM4, CTPS1, BTK, B2M, PRPS1, RANBP2, MBL2, TRNT1, NBN, NCF4, TFRC, ERCC2, HELLS, CECR1, NAA10, CREBBP, UMPS, RBPJ, CHD7, KRAS, HTR1A, COPA, CASP8, EGFR, CD40, ISG15, CD79A, DCLRE1C, BUB1B, CIITA, SKIV2L, NME8, LEP, PIK3CD, GFPT1, IL10, PSMB8, C2, NFKBIA, HLA-DRB1, VPS33B, IRF8, GLIS3, OFD1, C3, TMEM173, CLPB, NLRC4, TSHR, ITK, SLC22A4, STAT3, TYK2, INS, ABCC8, RORC, PIGR, NCF1, UNC119, GLB1, DKC1, CDSN, IL2RA, NRAS, BLNK, OAS1, SMAD9, MVK, CD40LG, TAZ, NFKB2, CFH, SMARCAL1, FOXP3, MTOR, ITGB2, CYBB, ELANE, PRKDC, CARD11, WAS, FASLG, IKBKB, IGKC, RPSA, IRF5, HAX1, ITPR3, THBD, STAT2, TRAC, TLR2, BCL10, LCK, DDX41, JAGN1, CORO1A, GIF, ZAP70, NGF, PRKCD, GJB2, ERCC6L2, PTRF, NTRK1, PEPD, ATM, JAK3, AP3B1, IL12B, IRF3, STAT1, NFKB1, NLRP3, SPATA5, CD19, POLE, BLM, CXCR4, FCGR2B, PTPRC, RPL11, PDGFRA, RTEL1, ADAM17, PNP, CUBN, HLA-C, DNMT3B, ADA, NHP2, VPS45, SELP, CR2, MLPH, GATA2, PIK3R1

COMPLEMENT FACTOR H DEFICIENCY, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, RUBINSTEIN-TAYBI SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, WHIM SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, LEPRECHAUNISM, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, COMPLEMENT FACTOR I DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, C3 DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS

CXCR4, IL10, CFI, STAT1, CREBBP, CD46, CFH, STAT3, EGFR, C3, SMAD9, PIK3R1, INSR

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, BARTH SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, OROTIC ACIDURIA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, LEPRECHAUNISM, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, {PSORIASIS SUSCEPTIBILITY 1}, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ARTS SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, HYPER-IGD SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, JOUBERT SYNDROME 10, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?CHARGE SYNDROME, CHARGE SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, MEVALONIC ACIDURIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OGDEN SYNDROME, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 24, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, IMMUNODEFICIENCY 38, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CILIARY DYSKINESIA, PRIMARY, 6, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, WISKOTT-ALDRICH SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, GRISCELLI SYNDROME, TYPE 2, BONE MARROW FAILURE SYNDROME 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, SMITH-KINGSMORE SYNDROME

TREX1, CNBP, IFIH1, FAS, CIITA, RAB27A, MYO5A, GCK, AK2, CTPS1, BTK, B2M, PRPS1, RANBP2, TRNT1, GATA2, NBN, NCF4, TFRC, ERCC2, HELLS, NAA10, CREBBP, UMPS, RBPJ, CHD7, KRAS, COPA, CASP8, CD40, ISG15, CD79A, DCLRE1C, BUB1B, MTOR, LEP, PIK3CD, GFPT1, IL10, PSMB8, STAT1, IRF8, OFD1, TMEM173, CLPB, NLRC4, ITK, SLC22A4, WAS, TYK2, INS, ABCC8, IRF7, FASLG, NCF1, KCNJ11, DKC1, IL2RA, BLNK, OAS1, SMAD9, MVK, HLA-DRB1, TAZ, NFKB2, SMARCAL1, ITGB2, TRAC, PRKDC, CARD11, HLA-C, IKBKB, MCM4, HAX1, ITPR3, NME8, STAT2, TPI1, TLR2, BCL10, LCK, DDX41, IRF5, CORO1A, NGF, PRKCD, ERCC6L2, RORC, NTRK1, PEPD, ATM, JAK3, IL12B, IRF3, NFKB1, STAT3, SPATA5, INSR, POLE, BLM, RPL11, PDGFRA, RTEL1, EGFR, DNMT3B, NHP2, ZAP70, NLRP3, SKIV2L, PIK3R1

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?CHARGE SYNDROME, CHARGE SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CANDIDIASIS, FAMILIAL, 9, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AGAMMAGLOBULINEMIA, X-LINKED 1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, OROTIC ACIDURIA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, HELSMOORTEL-VAN DER AA SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SPLENIC HYPOPLASIA, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 16, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, IMMUNODEFICIENCY 40, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, GRISCELLI SYNDROME, TYPE 1, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY, COMMON VARIABLE, 13, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 5, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, AGAMMAGLOBULINEMIA 6, C1Q DEFICIENCY, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, PEELING SKIN SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, WISKOTT-ALDRICH SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME

C3AR1, CD3D, IFIH1, FAS, FERMT3, IKBKG, IRF7, IKZF1, MYO5A, INSR, MC2R, BTK, CFD, DOCK2, RANBP2, IL21R, TFRC, MBL2, MPO, MS4A1, PRF1, ERCC2, CECR1, CREBBP, UMPS, RBPJ, AMN, DOK7, GH1, KRAS, NFKB2, IL10, CASP8, EGFR, NKX2-5, CD40, IRF5, IFNAR2, CD79A, CD8A, SEMA3E, CIITA, IL21, HLA-DRB1, CD79B, CD3E, LEP, PIK3CD, COPA, NFKBIA, ICOS, C2, CD247, CD27, STAT1, IRF8, C3, CD81, TNFRSF4, TSHR, ITK, SLC22A4, STAT3, TYK2, INS, ABCC8, IGKC, NCF1, KCNJ11, DKC1, CDSN, IL2RA, BLNK, SMAD9, C1R, CD40LG, RORC, FOXN1, FOXP3, MTOR, ITGB2, C1QA, CYBB, TPI1, PRKDC, B2M, CARD11, C1QB, FASLG, TBX21, GFI1, IL12B, HAX1, HNF1A, DNMT3B, ITPR3, PAX4, THBD, STAT2, ELANE, TLR2, SELP, LCK, NRAS, ISG15, AICDA, NGF, PRKCD, IL4R, IL17RA, TRAC, BAAT, CASP10, NTRK1, IL17RC, ATM, JAK3, BCL10, IRF3, NFKB1, WAS, CACNA1C, CD19, FADD, BLM, CXCR4, PLCG2, PTPRC, CD3G, RPL11, PDGFRA, ADAM17, CHAT, HLA-C, ADNP, ADA, NHP2, ZAP70, IKBKB, CR2, GATA2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, C3 DEFICIENCY, {PSORIASIS SUSCEPTIBILITY 1}, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, WHIM SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PEELING SKIN SYNDROME 1, MUCKLE-WELLS SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, {LEPROSY, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], COMPLEMENT FACTOR H DEFICIENCY, MYELOPEROXIDASE DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, HYPERTHYROIDISM, NONAUTOIMMUNE, IMMUNODEFICIENCY 43, SMITH-KINGSMORE SYNDROME, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

FASLG, CDSN, IL2RA, FCGR2B, CASP8, CD79A, ATM, CD40LG, NLRC4, IGKC, STAT1, THBD, CFH, LEP, ELANE, CXCR4, B2M, IL10, HLA-C, C3, MPO, TLR2, EGFR, TSHR, SELP, CECR1, NLRP3, PTPRC, INS, STAT3, CUBN, MTOR

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ATAXIA-TELANGIECTASIA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, KAPPA LIGHT CHAIN DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 38, BARTH SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 44, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, BERGER DISEASE, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, GRISCELLI SYNDROME, TYPE 2, {LEPROSY, SUSCEPTIBILITY TO}, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, ?IMMUNODEFICIENCY 13, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

NRAS, IRF5, NGF, PRKCD, CIITA, ISG15, IKBKG, ATM, STAT1, MYO5A, TAZ, IL12B, IGKC, HLA-DRB1, NFKB1, WAS, IRF3, INSR, RAB27A, ITGB2, NFKBIA, B2M, HTR1A, RANBP2, HLA-C, VPS33B, STX11, UNC119, TLR2, TMEM173, EGFR, AP3B1, KRAS, VPS45, CREBBP, STAT3, STAT2, PIGR, JAGN1, INS, RBPJ, MTOR, PIK3R1

IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?CHARGE SYNDROME, CHARGE SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CANDIDIASIS, FAMILIAL, 9, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NIEMANN-PICK DISEASE, TYPE A, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, [BLOOD GROUP, DUFFY SYSTEM], C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, ?IMMUNODEFICIENCY 16, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, AGAMMAGLOBULINEMIA 3, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY 14, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, BERGER DISEASE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?IMMUNODEFICIENCY 13, AGAMMAGLOBULINEMIA 6, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ?CANDIDIASIS, FAMILIAL, 8, LYMPHOPROLIFERATIVE SYNDROME 2, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

C3AR1, CD3D, FAS, SEMA3E, IKBKG, IRF7, INSR, MC2R, SMPD1, BTK, IL4R, RANBP2, IL21R, GATA2, TFRC, FOXN1, CREBBP, CD79B, HLA-DQA1, IL2RG, CD81, KRAS, HTR1A, CASP8, PTPRC, CD40, IFNAR2, CD79A, CIITA, IL21, CD3E, LEP, PIK3CD, IL10, CD247, CD27, HLA-DRB1, IRF8, C3, RBPJ, TMEM173, TNFRSF4, TSHR, IL7R, WAS, TYK2, INS, IFNGR1, RORC, PIGR, FASLG, UNC119, DKC1, SLC35A2, IL2RA, BLNK, IL12RB1, CD40LG, NFKB2, FOXP3, ITGB2, TRAC, ACKR1, EGFR, TBX21, IGKC, ITPR3, THBD, STAT2, ELANE, TLR2, LCK, IFNGR2, NGF, PRKCD, B2M, IL17RA, CD46, PTGER2, NTRK1, TRAF3IP2, IL17RC, ATM, JAK3, IL12B, STAT1, NFKB1, STAT3, CD19, FADD, BLM, CXCR4, FCGR2B, PLCG2, DEAF1, CD3G, RPL11, PDGFRA, HLA-DQB1, STX11, ADAM17, ABCC8, HLA-C, DNMT3B, ADA, SELP, ZAP70, IKBKB, CR2, MTOR, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, PROLIDASE DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, IMMUNODEFICIENCY 42, C3 DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, WHIM SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, C2 DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, DYSKERATOSIS CONGENITA, X-LINKED, COMPLEMENT FACTOR I DEFICIENCY, IMMUNODEFICIENCY 44, RUBINSTEIN-TAYBI SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, RHEUMATOID ARTHRITIS, LEUKOCYTE ADHESION DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, MASP2 DEFICIENCY, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, KAPPA LIGHT CHAIN DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPERTHYROIDISM, NONAUTOIMMUNE, C4A DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 43, COMPLEMENT FACTOR D DEFICIENCY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

FASLG, NGF, HLA-DQA1, CASP8, CD46, C1QC, FAS, CASP10, RORC, IL12B, FERMT3, PEPD, CXCR4, CD40LG, CARD11, SMAD9, IGKC, STAT1, NFKB1, DKC1, TNFAIP3, AK2, LEP, NTRK1, MTOR, ITGB2, C1QA, GFPT1, TPI1, PRKDC, CFD, B2M, CREBBP, PSMB8, PTPRC, C2, CFI, SELP, C1QB, C4A, EGFR, MBL2, C1R, IKBKG, IRF8, MASP2, ADAM17, C3, MALT1, HLA-C, HNF1A, DNMT3B, TSHR, ADA, SERPING1, CECR1, STX11, CD40, CIITA, STAT3, STAT2, ELANE, NFKBIL1, INS, RBPJ, ALG13, CFB, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 15, MEVALONIC ACIDURIA, OROTIC ACIDURIA, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LYMPHOPROLIFERATIVE SYNDROME 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ARTS SYNDROME, IMMUNODEFICIENCY 42, BARTH SYNDROME, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY 35, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SELECTIVE T-CELL DEFECT, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?IMMUNODEFICIENCY 39, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, FILS SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ADAMS-OLIVER SYNDROME 3, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ATELEIOTIC DWARFISM, RHEUMATOID ARTHRITIS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRICHOHEPATOENTERIC SYNDROME 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 46, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CILIARY DYSKINESIA, PRIMARY, 6, HYPER-IGD SYNDROME, SMITH-KINGSMORE SYNDROME, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, AGAMMAGLOBULINEMIA, X-LINKED 1, AGAMMAGLOBULINEMIA 4, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {LEPROSY, SUSCEPTIBILITY TO}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PROLIDASE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, OGDEN SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, IMMUNODEFICIENCY 24, IMMUNODEFICIENCY 8, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FASLG, NCF1, ZAP70, NGF, NFKB2, PRPS1, CIITA, EGFR, NAA10, CD40, ISG15, RORC, IL12B, PEPD, ATM, STAT1, IRF7, ITK, TAZ, BUB1B, SMAD9, HAX1, GCK, NFKB1, INSR, MTOR, IRF3, AK2, TFRC, LEP, DKC1, NME8, PIK3CD, IL2RA, CASP8, CTPS1, KRAS, TRAC, MVK, PRKDC, NLRP3, COPA, CARD11, PRKCD, JAK3, PDGFRA, ITGB2, IKBKB, BCL10, UMPS, GATA2, BLNK, POLE, NCF4, HLA-C, WAS, TLR2, NTRK1, XRCC4, IRF8, CREBBP, STAT3, STAT2, BTK, TYK2, SKIV2L, INS, RBPJ, CORO1A, PIK3R1

IMMUNODEFICIENCY 15, JOUBERT SYNDROME 10, HYPER-IGE RECURRENT INFECTION SYNDROME, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BARTH SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, OROTIC ACIDURIA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, MEVALONIC ACIDURIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, {PSORIASIS SUSCEPTIBILITY 1}, PROLIDASE DEFICIENCY, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ARTS SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, WHIM SYNDROME, HYPER-IGD SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 8, CILIARY DYSKINESIA, PRIMARY, 6, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OGDEN SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, AGAMMAGLOBULINEMIA 4, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 38, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY 24, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, SMITH-KINGSMORE SYNDROME

LCK, FASLG, NCF1, CASP8, ITPR3, NGF, NFKB2, PRPS1, COPA, CIITA, EGFR, OAS1, CD40, ISG15, RORC, IL12B, ZAP70, PEPD, INSR, ATM, JAK3, IRF7, STAT1, TAZ, BUB1B, SMAD9, CORO1A, GCK, NFKB1, UMPS, MTOR, IRF3, AK2, LEP, DKC1, NME8, PIK3CD, IL2RA, ITGB2, CTPS1, BTK, KRAS, TRAC, MVK, PRKDC, CXCR4, B2M, CARD11, PRKCD, NFKBIA, CLPB, OFD1, IKBKB, BCL10, PDGFRA, TRNT1, GATA2, BLNK, NBN, POLE, NCF4, HLA-C, WAS, CD3E, TLR2, NLRP3, NTRK1, XRCC4, IRF8, CREBBP, ITK, STAT3, NAA10, STAT2, TFRC, TYK2, SKIV2L, INS, RBPJ, HAX1, PIK3R1

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, BARTH SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, BERGER DISEASE, RUBINSTEIN-TAYBI SYNDROME, GRISCELLI SYNDROME, TYPE 3, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, OROTIC ACIDURIA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, MEVALONIC ACIDURIA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, LEPRECHAUNISM, SPLENIC HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, {PSORIASIS SUSCEPTIBILITY 1}, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ARTS SYNDROME, IMMUNODEFICIENCY 33, WHIM SYNDROME, HYPER-IGD SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 8, JOUBERT SYNDROME 10, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?CHARGE SYNDROME, CHARGE SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OGDEN SYNDROME, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 13, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 24, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 38, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CILIARY DYSKINESIA, PRIMARY, 6, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, WISKOTT-ALDRICH SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, GRISCELLI SYNDROME, TYPE 2, BONE MARROW FAILURE SYNDROME 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, SMITH-KINGSMORE SYNDROME

CNBP, IFIH1, FAS, IKBKG, IRF7, RAB27A, MYO5A, GCK, AK2, MCM4, CTPS1, BTK, B2M, PRPS1, RANBP2, TRNT1, GATA2, NBN, NCF4, TFRC, ERCC2, HELLS, NAA10, CREBBP, UMPS, RBPJ, CHD7, KRAS, HTR1A, COPA, CASP8, CD40, ISG15, CD79A, DCLRE1C, BUB1B, CIITA, MTOR, LEP, PIK3CD, GFPT1, IL10, PSMB8, C2, NFKBIA, STAT1, VPS33B, IRF8, OFD1, TMEM173, CLPB, NLRC4, ITK, SLC22A4, WAS, TYK2, INS, ABCC8, RORC, PIGR, FASLG, NCF1, KCNJ11, DKC1, IL2RA, NRAS, BLNK, OAS1, SMAD9, MVK, HLA-DRB1, TAZ, NFKB2, SMARCAL1, ITGB2, TRAC, PRKDC, CARD11, HLA-C, IKBKB, IGKC, RPSA, IRF5, HAX1, ITPR3, NME8, STAT2, TLR2, BCL10, LCK, DDX41, JAGN1, CORO1A, ZAP70, NGF, PRKCD, ERCC6L2, NTRK1, PEPD, ATM, JAK3, AP3B1, IL12B, IRF3, NFKB1, STAT3, SPATA5, INSR, POLE, BLM, CXCR4, RPL11, PDGFRA, RTEL1, UNC119, EGFR, DNMT3B, NHP2, VPS45, NLRP3, MLPH, SKIV2L, PIK3R1

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ATELEIOTIC DWARFISM, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CANDIDIASIS, FAMILIAL, 9, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, OROTIC ACIDURIA, ATAXIA-TELANGIECTASIA, MEVALONIC ACIDURIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SPLENIC HYPOPLASIA, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 16, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 44, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, GRISCELLI SYNDROME, TYPE 1, ?IMMUNODEFICIENCY 37, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, ARTS SYNDROME, DIGEORGE SYNDROME, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, HYPER-IGD SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, IMMUNODEFICIENCY 8, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, INTRINSIC FACTOR DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?CHARGE SYNDROME, CHARGE SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OGDEN SYNDROME, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, VELOCARDIOFACIAL SYNDROME, C1Q DEFICIENCY, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, PEELING SKIN SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, BRANCHIOOCULOFACIAL SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MYOTONIC DYSTROPHY 2, DIAMOND-BLACKFAN ANEMIA 7, GRISCELLI SYNDROME, TYPE 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 13