IMMUNOLOGY

AGAMMAGLOBULINEMIA 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}, ?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, 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}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, IMMUNODEFICIENCY 42, 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, KAPPA LIGHT CHAIN DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 16, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, AGAMMAGLOBULINEMIA 3, {HASHIMOTO THYROIDITIS}, BERGER DISEASE, WHIM SYNDROME, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 5, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], 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}, LYMPHOPROLIFERATIVE SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 20, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

LCK, FASLG, TNFRSF13B, CD244, IL7R, CD40LG, IL2RA, ICOS, EGFR, PRF1, FAS, CD8A, RORC, CD79A, MS4A2, CXCR4, CR2, STAT1, IRF7, IL12B, IGKC, CD79B, CD3E, C1QA, LEP, FOXP3, IL12RB1, ITGB2, TNFRSF4, FADD, NGF, BTK, B2M, CREBBP, CD247, TNFRSF13C, CD27, IL10, HLA-DRB1, FCGR3A, INS, PDGFRA, C3, CTLA4, CD81, CD19, MS4A1, PIGR, HLA-C, KRAS, ADA, SH2D1A, ZAP70, TLR2, CD40, JAK3, SELP, STAT3, TFRC, PTPRC, IL2RG, RBPJ, IL21, PIK3R1

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, {PSORIASIS SUSCEPTIBILITY 1}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 15, WHIM SYNDROME, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, ?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, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, AGAMMAGLOBULINEMIA 1, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, KAPPA LIGHT CHAIN DEFICIENCY, GRISCELLI SYNDROME, TYPE 2, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], HERMANSKY-PUDLAK SYNDROME 2, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, ?IMMUNODEFICIENCY 22

LCK, CD3D, CD40LG, LAMTOR2, STX11, HLA-C, NTRK1, CXCR4, IGHM, RAB27A, CD79A, IGKC, SPATA5, B2M, HLA-DRB1, VPS33B, VIPAS39, EGFR, AP3B1, SELP, ZAP70, IKBKB, INS

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {PSORIASIS SUSCEPTIBILITY 1}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, MANNOSIDOSIS, BETA, ASPARTYLGLUCOSAMINURIA, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, MANNOSIDOSIS, ALPHA-, TYPES I AND II, GM1-GANGLIOSIDOSIS, TYPE I, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, WHIM SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, C2 DEFICIENCY, ?IMMUNODEFICIENCY 39, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, MYELOPEROXIDASE DEFICIENCY, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY 43, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, SMITH-KINGSMORE SYNDROME, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

FASLG, NCF1, GLB1, NGF, IL2RA, MANBA, EGFR, PRF1, IRF5, FAS, FERMT3, NTRK1, CXCR4, STAT1, IRF7, C2, RAB27A, CD79A, HAX1, HLA-DRB1, IRF3, PIK3CD, MTOR, BCL10, BTK, CYBB, ELANE, B2M, MAN2B1, LRBA, ACP5, VPS33B, IRF8, TNFAIP3, NCF2, AGA, MPO, TLR2, NCF4, HLA-C, ADA, SELP, ITK, STAT3, TFRC, INS, CUBN, IGKC

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GRISCELLI SYNDROME, TYPE 1, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 8, SPLENIC HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, {PSORIASIS SUSCEPTIBILITY 1}, LEUKOCYTE ADHESION DEFICIENCY, SMITH-KINGSMORE SYNDROME, 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 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 38, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, RUBINSTEIN-TAYBI SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RHEUMATOID ARTHRITIS, BERGER DISEASE, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HERMANSKY-PUDLAK SYNDROME 2, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FASLG, NCF1, IRF5, CYBA, CORO1A, VPS45, CYBB, PRKCD, COPA, CASP8, NKX2-5, ISG15, IL12B, ATM, STAT1, MYO5A, AIRE, AP3B1, IL21, HLA-DRB1, CD3E, IRF3, CACNA1C, LEP, MTOR, ITGB2, BTK, NGF, TRAC, B2M, IL10, IL2RA, HLA-C, VPS33B, HLA-DQB1, STX11, PDGFRA, TMEM173, EGFR, RAB27A, TSHR, SELP, ZAP70, IRF8, CREBBP, WAS, PIGR, HLA-DQA1, INS, TLR2, GATA2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 12, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, GRISCELLI SYNDROME, TYPE 1, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, FOLATE MALABSORPTION, HEREDITARY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 45, LEUKOCYTE ADHESION DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ?IMMUNODEFICIENCY 22, ?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, C3 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE I, RUBINSTEIN-TAYBI SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ACRODERMATITIS ENTEROPATHICA, RHEUMATOID ARTHRITIS, FILS SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, WISKOTT-ALDRICH SYNDROME, AGAMMAGLOBULINEMIA 3, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, INTRINSIC FACTOR DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, GRISCELLI SYNDROME, TYPE 2, {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}, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HYPERTHYROIDISM, NONAUTOIMMUNE, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

AMN, FASLG, NCF1, GLB1, GIF, ITPR3, NGF, PRKCD, CASP8, SLC46A1, CD46, PRF1, FAS, IFNAR2, CD79A, SLC39A4, LCK, STAT1, KCNJ11, RAB27A, SMAD9, HAX1, INSR, CACNA1C, LEP, PIK3CD, ITGB2, DSG1, BTK, RANBP2, TPI1, POLE, B2M, CARD11, WAS, CYBA, EGFR, VPS33B, ADAM17, C3, CUBN, TFRC, IL12B, HNF1A, TSHR, SELP, VPS45, CREBBP, SLC22A4, STAT3, MALT1, PTPRC, INS, CD81, MYO5A, PIK3R1

IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, 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, KERATITIS-ICHTHYOSIS-DEAFNESS 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 34, MYCOBACTERIOSIS, X-LINKED, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ACRODERMATITIS ENTEROPATHICA, {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, {HASHIMOTO THYROIDITIS}, AGAMMAGLOBULINEMIA, X-LINKED 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, BERGER DISEASE, 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, MEVALONIC ACIDURIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY 19, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, 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, CD8 DEFICIENCY, FAMILIAL, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GRISCELLI SYNDROME, TYPE 2, C2 DEFICIENCY, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, [BLOOD GROUP, DUFFY SYSTEM], HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?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], 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, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, 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}, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, GRISCELLI SYNDROME, TYPE 1, AGAMMAGLOBULINEMIA 6, TRICHOHEPATOENTERIC SYNDROME 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, GM1-GANGLIOSIDOSIS, TYPE I, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, HYPER-IGD SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, AGAMMAGLOBULINEMIA 2, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, ?JOUBERT SYNDROME 26, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 10, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, INTRINSIC FACTOR DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 5, ?CHARGE SYNDROME, CHARGE SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, 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}, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, ?IMMUNODEFICIENCY 13, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, C4A DEFICIENCY, C1Q DEFICIENCY, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, HYALINE FIBROMATOSIS 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, PROPERDIN DEFICIENCY, X-LINKED, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, COMPLEMENT FACTOR I DEFICIENCY, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, ROUSSY-LEVY SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, 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, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, WISKOTT-ALDRICH SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, MASP2 DEFICIENCY, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, TRANSCOBALAMIN II DEFICIENCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, LYMPHEDEMA, HEREDITARY, III, 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}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

C3AR1, CD3D, CASP10, MPZ, TPI1, FAS, FERMT3, IKBKG, GFI1, MS4A2, IRF7, KCNJ11, RAB27A, MYO5A, INSR, AK2, NCF4, DSG1, SMPD1, BTK, CFD, IL4R, KIAA0556, LRBA, IL21R, PRF1, MASP2, IGLL1, MPO, POLE, COG6, MS4A1, TFRC, C1QC, FOXN1, CD40, UMPS, HLA-DQA1, IL2RG, RBPJ, SERPING1, AMN, DOK7, KRAS, NFKB2, HTR1A, IL10, CASP8, EGFR, NKX2-5, CREBBP, IRF5, SLC39A4, CD79A, CD8A, SEMA3E, PTRF, C2, TTC37, BUB1B, CIITA, IL21, HLA-DRB1, CD79B, CD3E, LEP, PIK3CD, COPA, MSMO1, GFPT1, NFKBIA, C1R, ICOS, TRAF3IP2, CD247, CD27, C4A, IGHM, VPS33B, IRF8, GLIS3, FCGR3A, NCF2, C3, CD81, FCGR2A, TMEM173, CLPB, TSHR, SH2D1A, AICDA, CFP, SLC22A4, DKC1, TYK2, INS, IFNGR1, IGKC, MALT1, FASLG, NCF1, STIM1, UNC119, GLB1, IL7R, IL2RA, BLNK, SMAD9, MVK, MC2R, RORC, FOXP3, MTOR, ITGB2, C1QA, CYBB, ELANE, PRKDC, CARD11, CFI, WAS, C1QB, ACKR1, HLA-DQB1, PIEZO1, TBX21, GJB2, RPSA, SCN1A, CDSN, IL12B, HAX1, HNF1A, CUBN, ITPR3, THBD, STAT2, TRAC, SKIV2L, TLR2, LCK, NRAS, CD244, ISG15, IFNGR2, CORO1A, GIF, ZAP70, NGF, CD40LG, PRKCD, B2M, IL17RA, SLC46A1, CD46, PTGER2, JAGN1, PMP22, NTRK1, IFNAR2, IL17RC, ATM, TNFAIP3, AP3B1, BCL10, IRF3, STAT1, NFKB1, STAT3, SPATA5, CACNA1C, CD19, FADD, CFB, RANBP2, BLM, CXCR4, FCGR2B, PTPRC, PLCG2, DEAF1, CD3G, ANTXR2, RPL11, JAK3, PDGFRA, STX11, ADAM17, TCN2, CTLA4, ABCC8, HLA-C, DNMT3B, ADA, SELP, VPS45, IKBKB, CR2, PIGR, GATA2, PIK3R1

AGAMMAGLOBULINEMIA 1, RETICULAR DYSGENESIS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), IMMUNODEFICIENCY 15, OROTIC ACIDURIA, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {PSORIASIS SUSCEPTIBILITY 1}, NIEMANN-PICK DISEASE, TYPE A, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, C1Q DEFICIENCY, IMMUNODEFICIENCY 24, ADAMS-OLIVER SYNDROME 3, GRISCELLI SYNDROME, TYPE 1, IMMUNODEFICIENCY 21, GM1-GANGLIOSIDOSIS, TYPE I, LEPRECHAUNISM, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SPLENIC HYPOPLASIA, LEUKOCYTE ADHESION DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 33, WHIM SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMPLEMENT FACTOR D DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, AGAMMAGLOBULINEMIA 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, CILIARY DYSKINESIA, PRIMARY, 6, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 5, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, TRICHOHEPATOENTERIC SYNDROME 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, INTRINSIC FACTOR DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, AGAMMAGLOBULINEMIA 3, {LEPROSY, SUSCEPTIBILITY TO}, {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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HERMANSKY-PUDLAK SYNDROME 2, TRANSCOBALAMIN II DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SMITH-KINGSMORE SYNDROME, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FASLG, RPSA, GLB1, GIF, ITPR3, SMPD1, C1QA, PRKCD, BAAT, CIITA, EGFR, PRF1, JAGN1, FAS, IL12B, INSR, CXCR4, CD40LG, IRF7, KRAS, AP3B1, IGLL1, CD79A, IGKC, GCK, CTPS1, LEP, IRF3, AK2, HBB, COLQ, NME8, HLA-DRB1, MTOR, ITGB2, MSMO1, GFPT1, NGF, ELANE, MYO5A, CFD, B2M, CREBBP, FBXL4, IL10, IL2RA, NFKBIA, IGHM, STAT1, PDGFRA, IKBKG, IKBKB, UMPS, ADAM17, GATA2, TCN2, RBPJ, HLA-C, SMAD9, TLR2, ADA, CUBN, SERPING1, ZAP70, IRF8, CD40, SELP, STAT3, SKIV2L, INS, CD81, HAX1, PIK3R1

IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, 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 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ?IMMUNODEFICIENCY 22, ?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, IMMUNODEFICIENCY 8, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, {HASHIMOTO THYROIDITIS}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, 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}, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, HERMANSKY-PUDLAK SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1

AMN, FASLG, NCF1, CYBB, LCK, STAT1, AP3B1, CORO1A, FOXP3, KRAS, B2M, CD40LG, VPS33B, NCF2, CTLA4, NCF4, EGFR, VPS45, STAT3, TFRC, PTPRC, INS, CUBN, PIK3R1

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

FAS, CASP10, FADD, CASP8

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

FAS, CASP10, FADD, CASP8

SMITH-KINGSMORE SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY 19, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 10, {CELIAC DISEASE, SUSCEPTIBILITY TO}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY

HLA-DQB1, FASLG, HLA-C, STIM1, KRAS, LEP, IL10, NGF, HLA-DRB1, STAT1, EGFR, STX11, GATA2, HLA-DQA1, MTOR, INS, CD3D, B2M

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, TRANSCOBALAMIN II DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NIEMANN-PICK DISEASE, TYPE A, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, GM1-GANGLIOSIDOSIS, TYPE I, INTRINSIC FACTOR DEFICIENCY, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT

FASLG, HLA-DRB1, GLB1, GIF, SMPD1, STAT1, EGFR, IRF8, IGKC, INS, CUBN, TCN2, ELANE

C8 DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?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, GRISCELLI SYNDROME, TYPE 2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, IMMUNODEFICIENCY 14, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SICKLE CELL ANEMIA, {HASHIMOTO THYROIDITIS}, AGAMMAGLOBULINEMIA, X-LINKED 1, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, IMMUNODEFICIENCY 44, 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-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, BERGER DISEASE, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, OROTIC ACIDURIA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), 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}, HELSMOORTEL-VAN DER AA SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY 19, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, 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 36, RUBINSTEIN-TAYBI SYNDROME, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, C2 DEFICIENCY, HYPER-IGD SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, KENNY-CAFFEY SYNDROME, TYPE 1, MUCKLE-WELLS SYNDROME, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, IMMUNODEFICIENCY 33, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, 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, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, RIDDLE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 6, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, AGAMMAGLOBULINEMIA 6, TRICHOHEPATOENTERIC SYNDROME 1, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, WISKOTT-ALDRICH SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, DIAMOND-BLACKFAN ANEMIA 7, DIGEORGE SYNDROME, ?IMMUNODEFICIENCY 45, MYASTHENIC SYNDROME, CONGENITAL, 5, WHIM SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, COMMON VARIABLE IMMUNODEFICIENCY 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, AGAMMAGLOBULINEMIA 2, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, JOUBERT SYNDROME 10, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, NIEMANN-PICK DISEASE, TYPE A, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 10, IMMUNODEFICIENCY, COMMON VARIABLE, 13, 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, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ICHTHYOSIS WITH CONFETTI, VELOCARDIOFACIAL SYNDROME, C1Q DEFICIENCY, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, 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, BRANCHIOOCULOFACIAL SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, ROUSSY-LEVY SYNDROME, ?IMMUNODEFICIENCY 37, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MYOTONIC DYSTROPHY 2, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, AICARDI-GOUTIERES SYNDROME 4, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

CCBE1, CYBA, HBB, CD3D, CASP10, NAA10, TPI1, RAG1, FAS, FERMT3, IKBKG, GFI1, MS4A2, RNASEH2A, IRF7, IKZF1, KCNJ11, RAB27A, MYO5A, INSR, AK2, TREX1, COLQ, MCM4, DSG1, SMPD1, BTK, CFD, IL4R, AICDA, RANBP2, IGHM, NCF4, TFRC, MBL2, PTRF, IGLL1, NBN, POLE, COG6, PRF1, ERCC2, HELLS, SERPING1, CNBP, CD40, UMPS, RBCK1, HLA-DQA1, IL2RG, RBPJ, C1QC, CHD7, GH1, KRAS, NFKB2, RBM8A, IL10, CASP8, EGFR, NKX2-5, CREBBP, ISG15, PSMB8, IFNAR2, CD79A, CD8A, SEMA3E, DCLRE1C, TTC37, BUB1B, CIITA, IL21, CD79B, CD3E, LEP, PIK3CD, COPA, XRCC4, MSMO1, GFPT1, C1R, ICOS, ORAI1, C2, CD247, NFKBIA, HLA-DRB1, VPS33B, IRF8, GLIS3, MPZ, C3, CD81, FCGR2A, TMEM173, CLPB, TSHR, SH2D1A, FBXL4, STX11, DKC1, TYK2, INS, ABCC8, IGKC, MALT1, TBX1, NCF1, STIM1, NCF2, LYST, SLC35A2, NRAS, BLNK, ZAP70, IRF5, SMAD9, C8A, IL12RB1, MVK, MC2R, PADI4, NLRC4, GCK, FOXP3, MTOR, ITGB2, C1QA, CYBB, ELANE, PRKDC, CARD11, WAS, C1QB, HLA-C, TBX21, GJB2, RPSA, SCN1A, CDSN, LMNB2, IL12B, HAX1, HNF1A, DNMT3B, ITPR3, TFAP2A, STAT2, TRAC, NFKBIL1, SKIV2L, STAT3, TLR2, SELP, LCK, DDX41, PLA2G7, CORO1A, ITK, NGF, CD40LG, PRKCD, B2M, IL17RA, RNF168, JAGN1, PMP22, RORC, NTRK1, FCN3, PEPD, ATM, AP3B1, BCL10, IRF3, STAT1, NFKB1, CR2, TBCE, CACNA1C, CD19, FADD, CD244, BLM, CXCR4, PTPRC, PLCG2, DEAF1, CD3G, SP110, RPL11, OFD1, HLA-DQB1, LAMTOR2, UNC119, RNF113A, CTLA4, CUBN, FASLG, KRT10, ADNP, NHP2, VPS45, IKBKB, GTF2H5, NLRP3, PIGR, C8B, GATA2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, AGAMMAGLOBULINEMIA 6, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, {PSORIASIS SUSCEPTIBILITY 1}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 25, KAPPA LIGHT CHAIN DEFICIENCY, TIMOTHY SYNDROME, 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}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, IMMUNODEFICIENCY 42, C3 DEFICIENCY, IMMUNODEFICIENCY 15, 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 20, WHIM SYNDROME, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 16, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 30, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, LYMPHOPROLIFERATIVE SYNDROME 2, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, AGAMMAGLOBULINEMIA 3, {HASHIMOTO THYROIDITIS}, LEUKOCYTE ADHESION DEFICIENCY, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 5, RUBINSTEIN-TAYBI SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {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, AGAMMAGLOBULINEMIA, X-LINKED 1, ?IMMUNODEFICIENCY 22, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, BERGER DISEASE, IMMUNODEFICIENCY 36, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, IMMUNODEFICIENCY 46, HYPERTHYROIDISM, NONAUTOIMMUNE, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY, COMMON VARIABLE, 7, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

LCK, FASLG, PRF1, DSG1, CD244, IL7R, C1QA, PRKCD, ICOS, CASP8, EGFR, CD40, FAS, CD8A, RORC, CD79A, MS4A2, CXCR4, CR2, HLA-DRB1, IRF7, KRAS, IL12B, IGKC, STAT1, CD79B, TNFRSF13B, CACNA1C, LEP, FOXP3, IL12RB1, PIK3CD, ITGB2, TNFRSF4, FADD, NGF, BTK, CD3E, B2M, CREBBP, PTPRC, CD247, TNFRSF13C, CD27, IL10, CD40LG, FCGR3A, INS, IKBKB, PDGFRA, ADAM17, C3, CTLA4, RBPJ, CD19, MS4A1, PIGR, HLA-C, TSHR, ADA, SH2D1A, ZAP70, TLR2, PTPN22, JAK3, SELP, STAT3, TFRC, IL2RA, IL2RG, CD81, IL21, PIK3R1

{SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 43, {PSORIASIS SUSCEPTIBILITY 1}, RHEUMATOID ARTHRITIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}

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

AGAMMAGLOBULINEMIA 6, AGAMMAGLOBULINEMIA, X-LINKED 1, AGAMMAGLOBULINEMIA 1, AGAMMAGLOBULINEMIA 3, IMMUNODEFICIENCY 43, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY

B2M, IGHM, CD79A, CD79B, BTK

IMMUNODEFICIENCY 15, 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, MYASTHENIC SYNDROME, CONGENITAL, 10, 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, ATELEIOTIC DWARFISM, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {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, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, IMMUNODEFICIENCY 43, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SPLENIC HYPOPLASIA, 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, CD8 DEFICIENCY, FAMILIAL, RUBINSTEIN-TAYBI SYNDROME, MUCKLE-WELLS SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 33, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HERMANSKY-PUDLAK SYNDROME 2, 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}, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 45, MYASTHENIC SYNDROME, CONGENITAL, 5, WHIM SYNDROME, IMMUNODEFICIENCY 14, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, 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, ?IMMUNODEFICIENCY 22, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, BLOOM SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, PEELING SKIN SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, MYOTONIC DYSTROPHY 2, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY, COMMON VARIABLE, 3, 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

LCK, FASLG, NCF1, C3AR1, JAGN1, DOK7, CORO1A, IRF8, ZAP70, CDSN, HTR1A, GJB2, STX11, CD46, CNBP, CD3E, IFNAR2, FAS, LYST, IKBKG, CD8A, CXCR4, STAT1, IRF7, KRAS, ITK, AP3B1, LEP, CIITA, HAX1, NFKB1, CRIPT, INSR, SPATA5, IRF3, CACNA1C, ITPR3, COLQ, PIK3CD, MTOR, ITGB2, THBD, DSG1, BTK, NGF, TPI1, PRKDC, NLRP3, B2M, PTPRC, CARD11, WAS, SP110, PRKCD, EGFR, IKBKB, GLIS3, CASP8, ADAM17, SCN1A, C3, CD81, NCF4, CD19, AIRE, HLA-C, HNF1A, FERMT3, BLM, RBPJ, ADA, KCNJ11, XRCC4, NKX2-5, CREBBP, SELP, STAT3, NAA10, ELANE, TYK2, INS, ABCC8, GATA2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, GRISCELLI SYNDROME, TYPE 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 19, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 33, WHIM SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?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, IMMUNODEFICIENCY 38, C2 DEFICIENCY, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, ACRODERMATITIS ENTEROPATHICA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, RHEUMATOID ARTHRITIS, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, INTRINSIC FACTOR DEFICIENCY, KAPPA LIGHT CHAIN DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, GRISCELLI SYNDROME, TYPE 2, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {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}, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, {CELIAC DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 43, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

AMN, NRAS, IRF5, GIF, ZAP70, NGF, NFKB2, B2M, CASP8, CD3D, CD40, ISG15, JAGN1, SLC39A4, CIITA, SLC29A3, ATM, STAT1, IRF7, CARD11, AP3B1, NTRK1, IGKC, HLA-DRB1, LEP, CD3E, INSR, FOXP3, KRAS, BTK, MYO5A, CXCR4, IL10, PSMB8, C2, HLA-C, VPS33B, HLA-DQB1, STX11, CUBN, NCF4, EGFR, RAB27A, SELP, VPS45, CREBBP, IKBKG, STAT3, TFRC, HLA-DQA1, INS, TLR2, IL21, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HERMANSKY-PUDLAK SYNDROME 2, GRISCELLI SYNDROME, TYPE 1, RHEUMATOID ARTHRITIS, BERGER DISEASE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}

FASLG, HLA-DQB1, AP3B1, MYO5A, HLA-DRB1, CASP8, HLA-DQA1, PIGR

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, TRANSCOBALAMIN II DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NIEMANN-PICK DISEASE, TYPE A, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, GM1-GANGLIOSIDOSIS, TYPE I, INTRINSIC FACTOR DEFICIENCY, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT

FASLG, HLA-DRB1, GLB1, GIF, SMPD1, STAT1, EGFR, IRF8, IGKC, INS, CUBN, TCN2, ELANE

C8 DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, 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, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CANDIDIASIS, FAMILIAL, 9, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SICKLE CELL ANEMIA, {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, BERGER DISEASE, 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}, HELSMOORTEL-VAN DER AA SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, 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}, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, C2 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 33, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, 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, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 6, 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, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, GRISCELLI SYNDROME, TYPE 1, NIEMANN-PICK DISEASE, TYPE A, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, WISKOTT-ALDRICH SYNDROME, ?IMMUNODEFICIENCY 45, MYASTHENIC SYNDROME, CONGENITAL, 5, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, AGAMMAGLOBULINEMIA 2, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?JOUBERT SYNDROME 26, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, INTRINSIC FACTOR DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 5, ?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}, 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, AGAMMAGLOBULINEMIA 6, ICHTHYOSIS WITH CONFETTI, C1Q DEFICIENCY, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, PROPERDIN DEFICIENCY, X-LINKED, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, COMPLEMENT FACTOR I DEFICIENCY, MASP2 DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, MYOTONIC DYSTROPHY 2, DIAMOND-BLACKFAN ANEMIA 7, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, TRANSCOBALAMIN II DEFICIENCY, C4A DEFICIENCY, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 13

CCBE1, HBB, CNBP, IFIH1, FAS, CD8A, IKBKG, IRF7, MYO5A, INSR, COLQ, BTK, CFD, IL4R, KIAA0556, IGHM, IL21R, TFRC, MASP2, IGLL1, MPO, COG6, MS4A1, PRF1, ERCC2, SERPING1, CECR1, CREBBP, CD79B, RBPJ, C1QC, AMN, GH1, KRAS, NFKB2, COPA, CASP8, EGFR, CD40, ISG15, IFNAR2, CD79A, SEMA3E, CIITA, IL21, CFH, CD3E, LEP, PIK3CD, GFPT1, NFKBIA, IL10, C2, CD27, C4A, HLA-DRB1, VPS33B, IRF8, C3, CD81, TNFRSF4, TSHR, CFP, STAT3, TYK2, INS, IFNGR1, IGKC, MALT1, FCGR2A, SMPD1, CFHR3, BLNK, SMAD9, TCN2, C1R, CD40LG, RORC, FOXN1, FOXP3, MTOR, ITGB2, C1QA, ELANE, PRKDC, B2M, CFI, C1QB, FASLG, TBX21, HAX1, HNF1A, ITPR3, ADA, THBD, STAT2, TPI1, TLR2, LCK, IRF5, GIF, ZAP70, NGF, PRKCD, IKZF1, IL17RA, CD46, PTGER2, PTRF, NTRK1, IL17RC, ATM, JAK3, AP3B1, IL12B, IRF3, STAT1, NFKB1, WAS, CACNA1C, CD19, FADD, CFB, BLM, CXCR4, FCGR2B, PTPRC, RPL11, PDGFRA, STX11, MBL2, ADAM17, CHAT, CUBN, HLA-C, KRT10, ADNP, CFHR1, SELP, C8A, IKBKB, CR2, PIGR, C8B, GATA2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {PSORIASIS SUSCEPTIBILITY 1}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HERMANSKY-PUDLAK SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, GRISCELLI SYNDROME, TYPE 1, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 43, BERGER DISEASE, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ATAXIA-TELANGIECTASIA

ATM, FASLG, HLA-C, B2M, AP3B1, IL10, MYO5A, HLA-DRB1, CASP8, STX11, HLA-DQB1, IRF8, PIGR, HLA-DQA1, TRAC

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {PSORIASIS SUSCEPTIBILITY 1}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, ASPARTYLGLUCOSAMINURIA, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, MANNOSIDOSIS, ALPHA-, TYPES I AND II, GM1-GANGLIOSIDOSIS, TYPE I, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, WHIM SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, C2 DEFICIENCY, MANNOSIDOSIS, BETA, ?IMMUNODEFICIENCY 39, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, MYELOPEROXIDASE DEFICIENCY, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 46, HERMANSKY-PUDLAK SYNDROME 2, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY 43, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, SMITH-KINGSMORE SYNDROME, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

FASLG, NCF1, GLB1, NGF, IL2RA, MANBA, EGFR, PRF1, IRF5, FAS, FERMT3, NTRK1, CXCR4, STAT1, IRF7, C2, AP3B1, CD79A, HAX1, HLA-DRB1, SPATA5, IRF3, PIK3CD, MTOR, FADD, BTK, CYBB, ELANE, B2M, MAN2B1, LRBA, ACP5, VPS33B, IRF8, TNFAIP3, BCL10, NCF2, AGA, MPO, TLR2, NCF4, HLA-C, RAB27A, ADA, SELP, ITK, STAT3, TFRC, INS, CUBN, IGKC

HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, 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, ACRODERMATITIS ENTEROPATHICA, 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, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, BERGER DISEASE, IMMUNODEFICIENCY 43, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, 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, ADAMS-OLIVER SYNDROME 3, 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, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, RHEUMATOID ARTHRITIS, 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, HERMANSKY-PUDLAK SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, NIEMANN-PICK DISEASE, TYPE A, TIMOTHY SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 33, WHIM SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 8, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LEUKOCYTE ADHESION DEFICIENCY, 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}, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, BRANCHIOOCULOFACIAL SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, GRISCELLI SYNDROME, TYPE 2, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, NETHERTON SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SMITH-KINGSMORE SYNDROME

AMN, FASLG, NCF1, LRBA, CYBA, VPS45, SMPD1, NFKB2, IL2RA, GJB2, IL12B, EGFR, TFAP2A, PRF1, SPINK5, FAS, FERMT3, IKBKG, SLC39A4, PEPD, INSR, CXCR4, CD40LG, TLR2, KRAS, C2, AP3B1, CIITA, CORO1A, GCK, NFKB1, WAS, PIGR, CACNA1C, LEP, NTRK1, FOXP3, HLA-DRB1, PIK3CD, MTOR, ITGB2, MSMO1, LCK, NGF, ELANE, MYO5A, PRKDC, ATM, B2M, CREBBP, CARD11, PRKCD, RANBP2, STAT1, VPS33B, STX11, PDGFRA, NCF2, CTLA4, RBPJ, NCF4, MPO, MALT1, HLA-C, HAX1, HNF1A, RAB27A, TSHR, SEMA3E, ADA, CUBN, SH2D1A, ZAP70, VIPAS39, CD40, BTK, SELP, STAT3, CASP8, TFRC, PTPRC, INS, CD81, IGKC, PIK3R1

C8 DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, 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, BARTH SYNDROME, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?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 34, MYCOBACTERIOSIS, X-LINKED, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, CANDIDIASIS, FAMILIAL, 9, IMMUNODEFICIENCY 14, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ACRODERMATITIS ENTEROPATHICA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NETHERTON SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SICKLE CELL ANEMIA, {HASHIMOTO THYROIDITIS}, AGAMMAGLOBULINEMIA, X-LINKED 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, IMMUNODEFICIENCY 44, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, 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}, HELSMOORTEL-VAN DER AA SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY 24, IMMUNODEFICIENCY 19, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, 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, CD8 DEFICIENCY, FAMILIAL, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, C2 DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, IMMUNODEFICIENCY 40, DYSKERATOSIS CONGENITA, X-LINKED, NIJMEGEN BREAKAGE SYNDROME, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, [BLOOD GROUP, DUFFY SYSTEM], IMMUNODEFICIENCY 33, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, 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, 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, PROPERDIN DEFICIENCY, X-LINKED, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 6, 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}, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, AGAMMAGLOBULINEMIA 6, TRICHOHEPATOENTERIC SYNDROME 1, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, WISKOTT-ALDRICH SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, ?IMMUNODEFICIENCY 45, MYASTHENIC SYNDROME, CONGENITAL, 5, WHIM SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMMON VARIABLE IMMUNODEFICIENCY 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, AGAMMAGLOBULINEMIA 2, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, JOUBERT SYNDROME 10, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], NIEMANN-PICK DISEASE, TYPE A, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, BERGER DISEASE, IMMUNODEFICIENCY 10, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, INTRINSIC FACTOR DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 23, IMMUNODEFICIENCY, COMMON VARIABLE, 5, ?CHARGE SYNDROME, CHARGE SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, COMPLEMENT FACTOR H DEFICIENCY, MYELOPEROXIDASE DEFICIENCY, {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, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, HYPER-IGD SYNDROME, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, ?IMMUNODEFICIENCY 13, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?JOUBERT SYNDROME 26, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, ICHTHYOSIS WITH CONFETTI, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, C1Q DEFICIENCY, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, HYALINE FIBROMATOSIS SYNDROME, IMMUNODEFICIENCY 42, GRISCELLI SYNDROME, TYPE 2, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, PEELING SKIN SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BRANCHIOOCULOFACIAL SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, CILIARY DYSKINESIA, PRIMARY, 6, COMPLEMENT FACTOR I DEFICIENCY, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, ROUSSY-LEVY SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, KENNY-CAFFEY SYNDROME, TYPE 1, 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, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MYOTONIC DYSTROPHY 2, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, MASP2 DEFICIENCY, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, TRANSCOBALAMIN II DEFICIENCY, C4A DEFICIENCY, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, LYMPHEDEMA, HEREDITARY, III, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

C3AR1, CYBA, HBB, CD3D, NCF1, CASP10, KCNJ11, NAA10, TPI1, TBCE, FAS, FERMT3, IKBKG, GFI1, MS4A2, PTPN22, IRF7, SLC35A1, GLB1, RAB27A, NBN, MYO5A, INSR, AK2, TREX1, COLQ, MCM4, FCGR3A, CTPS1, IL7R, G6PC3, CFD, IL4R, PIK3CD, LRBA, IGHM, NCF4, PRF1, MASP2, PTRF, BLNK, MPV17, MPO, POLE, COG6, MS4A1, TFRC, MBL2, C1QC, CECR1, CPT2, CREBBP, MPZ, UMPS, RBCK1, HLA-DQA1, IL2RG, RBPJ, SERPING1, AICDA, AMN, DOK7, FOXN1, KRAS, HTR1A, IL10, CFP, HLA-C, NKX2-5, CD40, ISG15, PSMB8, IFNAR2, CD79A, CD8A, SEMA3E, DCLRE1C, TTC37, BUB1B, CIITA, IL21, THBD, CD3E, ANTXR2, LEP, SLC39A4, COPA, MSMO1, GFPT1, CD27, C1R, ICOS, ORAI1, C2, CD247, NFKBIA, C4A, HLA-DRB1, VPS33B, IRF8, GLIS3, PDGFRA, NCF2, SLC35C1, C3, CD81, KIAA0556, TMEM173, CLPB, NLRC4, TSHR, SH2D1A, ITK, STX11, SLC22A4, DKC1, CD79B, TYK2, SPATA5, INS, IFNGR1, IGKC, MALT1, FCGR2A, TNFRSF13B, STIM1, UNC119, LYST, SLC35A2, IL2RA, NRAS, IGLL1, IRF5, SMPD1, SMAD9, SLC29A3, MVK, MC2R, TAZ, NFKB2, CFH, FOXP3, EGFR, MTOR, ITGB2, C1QA, CYBB, ELANE, PRKDC, B2M, CARD11, CFI, WAS, C1QB, ACKR1, FASLG, PIEZO1, TBX21, GJB2, RPSA, SCN1A, CDSN, DSG1, LMNB2, IL12B, HAX1, HNF1A, DNMT3B, PMP22, CUBN, ITPR3, TFAP2A, SPINK5, NME8, STAT2, BTK, SKIV2L, ZAP70, TLR2, SELP, AIRE, LCK, DDX41, CD244, JAGN1, IFNGR2, CORO1A, GIF, C8A, NGF, CD40LG, PRKCD, DOCK2, IL17RA, SLC46A1, CD46, TRAC, PTGER2, DOCK8, RORC, NTRK1, TRAF3IP2, PEPD, ATM, TNFAIP3, AP3B1, BCL10, IRF3, STAT1, NFKB1, STAT3, ZBTB24, CACNA1C, CD19, IL17RC, FADD, CFB, RANBP2, BLM, CXCR4, FCGR2B, PTPRC, PLCG2, DEAF1, CD3G, IL21R, SP110, RPL11, JAK3, OFD1, LAMTOR2, CNBP, PGM3, ADAM17, TCN2, CTLA4, ABCC8, HLA-DQB1, KRT10, ADNP, ADA, NHP2, VPS45, IKBKB, CR2, CASP8, PIGR, C8B, ALG13, GATA2, PIK3R1

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

HLA-DRB1, HLA-DQB1, HLA-DQA1

IMMUNODEFICIENCY 15, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, 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, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, AGAMMAGLOBULINEMIA, X-LINKED 1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SPLENIC HYPOPLASIA, 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 22, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ADAMS-OLIVER SYNDROME 3, RHEUMATOID ARTHRITIS, 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], ?IMMUNODEFICIENCY 13, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, IMMUNODEFICIENCY 36, 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}, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, NIEMANN-PICK DISEASE, TYPE A, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, GM1-GANGLIOSIDOSIS, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, IMMUNODEFICIENCY 33, WHIM SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, AGAMMAGLOBULINEMIA 1, WISKOTT-ALDRICH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, {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, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, MYOTONIC DYSTROPHY 2, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

LCK, SLC35A2, NRAS, UNC119, GLB1, ZAP70, NGF, COPA, CASP8, STX11, CD46, NKX2-5, TRAC, CFD, IRF5, ISG15, IKBKG, GFI1, PEPD, ATM, CD40LG, IRF7, SLC35A1, AIRE, AP3B1, LEP, CIITA, IGKC, STAT1, WAS, SPATA5, CACNA1C, INSR, FOXP3, HLA-DRB1, MTOR, ITGB2, KRAS, BTK, SMPD1, ELANE, MYO5A, PRKDC, CXCR4, B2M, PTPRC, IL10, FASLG, RANBP2, IGHM, EGFR, VPS33B, HLA-DQB1, IKBKB, PDGFRA, ADAM17, HLA-DQA1, SLC35C1, C3, TPI1, COG6, RBPJ, NCF4, HLA-C, HNF1A, TSHR, TLR2, SELP, VPS45, CNBP, CD40, STAT3, NAA10, TFRC, JAGN1, INS, CD81, SKIV2L, PIK3R1

C8 DEFICIENCY, TYPE I, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY, C3 DEFICIENCY, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, 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, MASP2 DEFICIENCY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, C1R/C1S DEFICIENCY, COMBINED, SICKLE CELL ANEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, KAPPA LIGHT CHAIN DEFICIENCY, AGAMMAGLOBULINEMIA 3, COMPLEMENT FACTOR H DEFICIENCY, IMMUNODEFICIENCY 46, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HYPERTHYROIDISM, NONAUTOIMMUNE, C4A DEFICIENCY, ?IMMUNODEFICIENCY 22, COMPLEMENT FACTOR D DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY, COMMON VARIABLE, 3, 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

LCK, C3AR1, HBB, NGF, CFHR3, C1QC, FAS, FCN3, CD79A, C1R, CD40LG, IKBKG, IGKC, CFD, LEP, C1QA, B2M, C2, CFI, PRKCD, C1QB, IGHM, C4A, TFRC, MASP2, GATA2, C3, CD19, EGFR, TSHR, CFHR1, SERPING1, C8A, CD40, CFH, IL2RA, INS, CUBN, CFB

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {PSORIASIS SUSCEPTIBILITY 1}, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, 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, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, 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], 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}, IMMUNODEFICIENCY 46, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

NCF1, NGF, IL2RA, CASP8, IKBKG, SLC29A3, CXCR4, STAT1, AP3B1, MTOR, HLA-DRB1, SPATA5, INSR, FOXP3, FADD, KRAS, BTK, B2M, PSMB8, HLA-DQA1, HLA-C, VPS33B, HLA-DQB1, IRF8, GATA2, EGFR, SELP, LAMTOR2, STAT3, TFRC, PTPRC, INS, CUBN, IGKC, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 8, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {PSORIASIS SUSCEPTIBILITY 1}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GRISCELLI SYNDROME, TYPE 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SPLENIC HYPOPLASIA, C3 DEFICIENCY, ATAXIA-TELANGIECTASIA, KAPPA LIGHT CHAIN DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, SMITH-KINGSMORE SYNDROME, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 38, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, RUBINSTEIN-TAYBI SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, {HASHIMOTO THYROIDITIS}, WHIM SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, 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, ?IMMUNODEFICIENCY 22, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, HERMANSKY-PUDLAK SYNDROME 2, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, BERGER DISEASE, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, COMPLEMENT FACTOR D DEFICIENCY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FASLG, NCF1, IRF5, CYBA, CORO1A, HBB, ZAP70, CYBB, PRKCD, IL10, CASP8, EGFR, NKX2-5, TRAC, CFD, CD3E, ISG15, JAGN1, IL12B, ATM, STAT1, MYO5A, AIRE, AP3B1, CIITA, IGKC, HLA-DRB1, NFKB1, INSR, MTOR, IRF3, CACNA1C, LEP, IL2RA, ITGB2, BTK, NGF, ELANE, PRKDC, CXCR4, COPA, B2M, TYK2, WAS, CD40LG, VPS33B, CD46, HLA-DQB1, IRF8, GLIS3, PDGFRA, GATA2, C3, CTLA4, TMEM173, PIGR, HLA-C, RAB27A, TSHR, ADA, SERPING1, VPS45, STX11, CREBBP, SELP, STAT3, TFRC, HLA-DQA1, INS, TLR2, IL21, PIK3R1

IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SICKLE CELL ANEMIA, 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, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 43, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, ?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}, HELSMOORTEL-VAN DER AA SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, LEPRECHAUNISM, FOLATE MALABSORPTION, HEREDITARY, SPLENIC HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DYSKERATOSIS CONGENITA, X-LINKED, ADAMS-OLIVER SYNDROME 3, [BLOOD GROUP, DUFFY SYSTEM], RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, ?IMMUNODEFICIENCY 13, HERMANSKY-PUDLAK SYNDROME 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 12, 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, IMMUNODEFICIENCY 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 10, 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}, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, BRANCHIOOCULOFACIAL SYNDROME, ROUSSY-LEVY SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, DIAMOND-BLACKFAN ANEMIA 7, GRISCELLI SYNDROME, TYPE 2, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, C4A DEFICIENCY, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME

C3AR1, CYBA, HBB, IKBKG, RAB27A, MYO5A, TREX1, BTK, B2M, RANBP2, NCF4, CREBBP, RBPJ, KRAS, HTR1A, CASP8, NKX2-5, CD40, LYST, IL12B, BUB1B, MTOR, CRIPT, LEP, PIK3CD, C4A, STAT1, MPZ, TSHR, WAS, TYK2, INS, IFNGR1, PMM2, MALT1, NCF1, STIM1, UNC119, KCNJ11, SMPD1, SMAD9, HLA-DRB1, NFKB2, FOXP3, ITGB2, NGF, PRKDC, CARD11, ACKR1, FASLG, TBX21, SCN1A, GFI1, HAX1, HNF1A, ITPR3, TFAP2A, STAT3, TLR2, LCK, CYBB, PRKCD, GJB2, SLC46A1, PTGER2, NTRK1, IFNAR2, ATM, TNFAIP3, AP3B1, NFKB1, DKC1, CACNA1C, INSR, FADD, CXCR4, RPL11, STX11, ADAM17, CHAT, ABCC8, EGFR, ADNP, ADA, VPS45, GATA2, PIK3R1

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

HLA-DQB1, HLA-C, HLA-DRB1, HLA-DQA1

?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1

NCF1, NCF4, EGFR, NCF2

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {PSORIASIS SUSCEPTIBILITY 1}, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, NIEMANN-PICK DISEASE, TYPE A, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, GM1-GANGLIOSIDOSIS, TYPE I, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, 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, TRANSCOBALAMIN II DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AGAMMAGLOBULINEMIA 1, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, INTRINSIC FACTOR DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, GRISCELLI SYNDROME, TYPE 2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {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}, IMMUNODEFICIENCY 46, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, COMPLEMENT FACTOR D DEFICIENCY, SMITH-KINGSMORE SYNDROME, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

FASLG, NCF1, ELANE, GLB1, HBB, SMPD1, CD40LG, IL2RA, CASP8, EGFR, IRF5, IL12B, SLC29A3, CXCR4, STAT1, AP3B1, IKBKG, IGKC, HLA-DRB1, STAT3, SPATA5, GIF, INSR, FOXP3, FADD, SLC35A2, BTK, B2M, PSMB8, HLA-DQA1, IGHM, HLA-C, VPS33B, IRF8, GATA2, TCN2, HLA-DQB1, HNF1A, RAB27A, KRAS, SELP, LAMTOR2, NGF, CFD, TFRC, PTPRC, INS, CUBN, MTOR, PIK3R1

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, CHRONIC GRANULOMATOUS DISEASE, X-LINKED

CYBB, CYBA, NCF4, NCF1, NCF2

IMMUNODEFICIENCY 8, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, GRISCELLI SYNDROME, TYPE 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SMITH-KINGSMORE SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, BERGER DISEASE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, C2 DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 43, GM1-GANGLIOSIDOSIS, TYPE I, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ADAMS-OLIVER SYNDROME 3, OROTIC ACIDURIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, {HASHIMOTO THYROIDITIS}, WISKOTT-ALDRICH SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, GRISCELLI SYNDROME, TYPE 2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, AGAMMAGLOBULINEMIA 4, 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 46, IMMUNODEFICIENCY 36, HERMANSKY-PUDLAK SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, COMMON VARIABLE IMMUNODEFICIENCY 1, CHEDIAK-HIGASHI SYNDROME, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NETHERTON SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, FASLG, NCF1, GLB1, HBB, NGF, NFKB2, PRKCD, IL10, BLNK, EGFR, CD40, FAS, LYST, IKBKG, PTPN22, ATM, STAT1, MYO5A, AP3B1, BUB1B, IL12B, CORO1A, HLA-DRB1, NFKB1, INSR, CACNA1C, LEP, FOXP3, PIK3CD, MTOR, BCL10, KRAS, BTK, PRKDC, IL4R, CREBBP, B2M, C2, WAS, NFKBIA, CD40LG, VPS33B, TBX21, UMPS, GATA2, CTLA4, TMEM173, PIGR, TFRC, HAX1, RAB27A, HLA-C, SELP, ITPR3, STX11, SPINK5, CIITA, STAT3, MALT1, INS, RBPJ, IGKC, PIK3R1

{PSORIASIS SUSCEPTIBILITY 1}, 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, LEPRECHAUNISM, SPLENIC HYPOPLASIA, C3 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, ?IMMUNODEFICIENCY 22, ?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 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ADAMS-OLIVER SYNDROME 3, RHEUMATOID ARTHRITIS, TRICHOHEPATOENTERIC SYNDROME 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], IMMUNODEFICIENCY 46, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, NGF, B2M, IRF5, FAS, IL12B, STAT1, LEP, MTOR, HLA-DRB1, STAT3, IRF3, INSR, ITGB2, IL10, HLA-C, RPSA, C3, RBPJ, EGFR, SELP, CD40, CD46, TFRC, INS, ABCC8, CD81, SKIV2L

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, IMMUNODEFICIENCY 21, GRISCELLI SYNDROME, TYPE 1, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY 40, DYSKERATOSIS CONGENITA, X-LINKED, WISKOTT-ALDRICH SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {LEPROSY, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, 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, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 43, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

NCF1, KCNJ11, NFKB1, CYBB, IL10, SMAD9, STAT1, MYO5A, CYBA, BUB1B, NTRK1, PMM2, CRIPT, LEP, TNFAIP3, CACNA1C, ITPR3, INSR, DKC1, NGF, BTK, DOCK2, B2M, FASLG, TBX21, SCN1A, CHAT, ABCC8, EGFR, IL12B, HNF1A, ADA, VPS45, CREBBP, WAS, INS, TLR2, GATA2

{ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY 15, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, RHEUMATOID ARTHRITIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, GRISCELLI SYNDROME, TYPE 2, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}

HLA-DRB1, PSMB8, RAB27A, SELP, VPS33B, IKBKB, IRF5, NTRK1, SLC29A3

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, {PSORIASIS SUSCEPTIBILITY 1}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, IMMUNODEFICIENCY 43, RHEUMATOID ARTHRITIS, C2 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, ?IMMUNODEFICIENCY 22, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}

LCK, HLA-C, B2M, C2, HLA-DRB1, IL10, CASP8, STX11, CREBBP, NTRK1

C8 DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?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 34, MYCOBACTERIOSIS, X-LINKED, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, {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, SICKLE CELL ANEMIA, {HASHIMOTO THYROIDITIS}, {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, IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {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, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, 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, TRANSCOBALAMIN II DEFICIENCY, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, C2 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, [BLOOD GROUP, DUFFY SYSTEM], HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 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], MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {PSORIASIS SUSCEPTIBILITY 1}, GRISCELLI SYNDROME, TYPE 1, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE I, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, AGAMMAGLOBULINEMIA 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, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, BERGER DISEASE, 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}, ?IMMUNODEFICIENCY 13, 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, AGAMMAGLOBULINEMIA 6, C1Q DEFICIENCY, LEPRECHAUNISM, HYALINE FIBROMATOSIS SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, PEELING SKIN SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, PROPERDIN DEFICIENCY, X-LINKED, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, COMPLEMENT FACTOR I DEFICIENCY, MASP2 DEFICIENCY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, NETHERTON SYNDROME, C4A DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 13

HBB, CD3D, FAS, CD8A, IKBKG, IRF7, INSR, CDSN, BTK, CFD, IKZF1, DNASE1, IGHM, IL21R, TFRC, MASP2, MPO, PRF1, ERCC2, SERPING1, FOXN1, CREBBP, CD79B, RBPJ, C1QC, CHD7, KRAS, IL10, CASP8, EGFR, NKX2-5, SPINK5, PLA2G7, FCN3, CD79A, SEMA3E, MYO5A, CIITA, GATA2, CFP, LEP, PIK3CD, GFPT1, CD27, ICOS, C2, NFKBIA, C4A, HLA-DRB1, IRF8, C3, CD81, TSHR, ITK, STAT3, DEAF1, INS, IFNGR1, IGKC, PIGR, FCGR2A, UNC119, GLB1, IL7R, IL2RA, IGLL1, OAS1, IFNAR2, SMAD9, CD40, C1R, CD40LG, CFB, FOXP3, ITGB2, C1QA, CYBB, ELANE, PRKDC, CFI, C1QB, ACKR1, FASLG, IKBKB, SCN1A, HAX1, HNF1A, GH1, PAX4, CFH, STAT2, TPI1, NFKBIL1, TLR2, LCK, ISG15, GIF, ZAP70, NGF, PRKCD, B2M, IL17RA, CD46, PTGER2, CASP10, RORC, NTRK1, TRAF3IP2, IL17RC, CXCR4, JAK3, IL12B, IRF3, STAT1, NFKB1, WAS, CACNA1C, CD19, FADD, PTPRC, TYK2, ANTXR2, PDGFRA, MBL2, ADAM17, TCN2, CTLA4, CUBN, HLA-C, DNMT3B, SELP, C8A, CR2, C8B, MTOR, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 12, GRISCELLI SYNDROME, TYPE 1, HYPER-IGE RECURRENT INFECTION SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, GM1-GANGLIOSIDOSIS, TYPE I, FOLATE MALABSORPTION, HEREDITARY, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, ACRODERMATITIS ENTEROPATHICA, FILS SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, INTRINSIC FACTOR DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, GRISCELLI SYNDROME, TYPE 2, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HYPERTHYROIDISM, NONAUTOIMMUNE, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

AMN, FASLG, NCF1, GLB1, GIF, NGF, PRKCD, CASP8, SLC46A1, PRF1, FAS, SLC39A4, SMAD9, LCK, CYBA, RAB27A, CD79A, MYO5A, LEP, ITGB2, DSG1, POLE, B2M, CARD11, TFRC, VPS33B, ADAM17, C3, CUBN, EGFR, IL12B, TSHR, SELP, VPS45, CREBBP, SLC22A4, STAT3, PIK3R1, PTPRC, INS, CD81, MALT1

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, 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, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, 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, {HASHIMOTO THYROIDITIS}, 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, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, OROTIC ACIDURIA, 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, 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, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, RHEUMATOID ARTHRITIS, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, ?IMMUNODEFICIENCY 13, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, {PSORIASIS SUSCEPTIBILITY 1}, GRISCELLI SYNDROME, TYPE 1, AGAMMAGLOBULINEMIA 6, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE I, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MYOTONIC DYSTROPHY 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, INTRINSIC FACTOR DEFICIENCY, {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, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, BLOOM SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, BRANCHIOOCULOFACIAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, GRISCELLI SYNDROME, TYPE 2, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY

LCK, FASLG, NCF1, MCM4, LRBA, JAGN1, CYBA, TREX1, ITPR3, NGF, NFKB2, IL2RA, IL10, CYBB, EGFR, CNBP, CREBBP, ISG15, KRAS, IKBKG, ZAP70, MYO5A, ATM, CD40LG, IRF7, SLC35A1, GLB1, AP3B1, BLM, BCL10, HAX1, HLA-DRB1, CD79B, CD3E, IRF3, GIF, LEP, FOXP3, RAB27A, PIK3CD, FADD, BTK, SLC35A2, TPI1, POLE, PRKDC, COPA, B2M, PTPRC, PRKCD, NFKBIA, IGHM, STAT1, VPS33B, CD46, INS, IKBKB, GLIS3, UNC119, GATA2, C3, CTLA4, RBPJ, COG6, TMEM173, TFAP2A, HLA-C, HNF1A, ERCC2, TSHR, CUBN, VPS45, STX11, CD40, JAK3, UMPS, TFRC, TYK2, IL2RG, STAT3, CD81, RANBP2, IGKC, PIK3R1

HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, 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, ACRODERMATITIS ENTEROPATHICA, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {HASHIMOTO THYROIDITIS}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, BERGER DISEASE, IMMUNODEFICIENCY 43, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, 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, 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, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, RHEUMATOID ARTHRITIS, 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, HERMANSKY-PUDLAK SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {PSORIASIS SUSCEPTIBILITY 1}, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, NIEMANN-PICK DISEASE, TYPE A, TIMOTHY SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, WHIM SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 8, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, 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}, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, BRANCHIOOCULOFACIAL SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, GRISCELLI SYNDROME, TYPE 2, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, NETHERTON SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, SMITH-KINGSMORE SYNDROME

AMN, FASLG, NCF1, LRBA, CYBA, ZAP70, SMPD1, NFKB2, PRKCD, IL4R, GJB2, EGFR, TFAP2A, CD40, NGF, SLC39A4, IL12B, FERMT3, PEPD, CXCR4, CD40LG, TLR2, KRAS, AP3B1, NTRK1, CORO1A, GCK, NFKB1, WAS, CACNA1C, LEP, PRF1, FOXP3, PIK3CD, MTOR, ITGB2, MSMO1, LCK, CYBB, ELANE, MYO5A, PRKDC, ATM, B2M, CREBBP, CARD11, SELP, RANBP2, STAT1, VPS33B, STX11, PDGFRA, NCF2, CTLA4, HLA-DRB1, NCF4, MPO, PIGR, HLA-C, HAX1, HNF1A, RAB27A, TSHR, ADA, SH2D1A, VPS45, VIPAS39, SPINK5, CIITA, STAT3, CASP8, TFRC, PTPRC, INS, CUBN, IGKC, PIK3R1, CD81

IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT

CD247, CD3D, CD3G, CD3E

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, GRISCELLI SYNDROME, TYPE 1, NIEMANN-PICK DISEASE, TYPE A, HYPER-IGE RECURRENT INFECTION SYNDROME, TIMOTHY SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, ?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, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RHEUMATOID ARTHRITIS, BERGER DISEASE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, GRISCELLI SYNDROME, TYPE 2, {LEPROSY, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MYELOPEROXIDASE DEFICIENCY, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 36, HERMANSKY-PUDLAK SYNDROME 2, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NETHERTON SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

CYBA, NGF, CASP8, NTRK1, HLA-DRB1, MYO5A, AP3B1, CIITA, NFKB2, NFKB1, CACNA1C, LEP, ITGB2, SMPD1, ELANE, VPS33B, NCF2, MPO, EGFR, RAB27A, TSHR, SELP, SPINK5, STAT3, PIK3R1, INS, TLR2, GCK, PIGR

{HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, IMMUNODEFICIENCY 14, FOLATE MALABSORPTION, HEREDITARY, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AGAMMAGLOBULINEMIA 3, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, IMMUNODEFICIENCY 42, 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, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 16, ?CANDIDIASIS, FAMILIAL, 8, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMPLEMENT FACTOR D DEFICIENCY, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY 38, C3 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PEELING SKIN SYNDROME 1, IMMUNODEFICIENCY 44, RUBINSTEIN-TAYBI SYNDROME, CANDIDIASIS, FAMILIAL, 9, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 2, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, LYMPHOPROLIFERATIVE SYNDROME 2, LEUKOCYTE ADHESION DEFICIENCY, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {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}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 46, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, FASLG, ISG15, FOXN1, CDSN, PRKCD, IL10, GJB2, SLC46A1, HLA-C, SELP, CFD, CREBBP, PTGER2, FAS, TRAF3IP2, CD79A, FERMT3, IL17RC, ATM, CR2, STAT1, IGLL1, LEP, IKBKG, IGKC, HLA-DRB1, THBD, TFRC, INSR, PIK3CD, MTOR, ITGB2, TNFRSF4, BTK, NGF, ELANE, PRKDC, CXCR4, B2M, WAS, CD27, IGHM, CD40LG, PDGFRA, CD46, INS, STX11, MBL2, ADAM17, GATA2, C3, TLR2, IRF5, CD19, TMEM173, MALT1, EGFR, IL12B, HNF1A, TSHR, ADA, NTRK1, CD8A, ITPR3, IRF8, CD40, CIITA, STAT3, STAT2, RBPJ, PTPRC, IL2RG, CD81, RORC, PIK3R1

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, 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, ?IMMUNODEFICIENCY 37, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ACRODERMATITIS ENTEROPATHICA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SICKLE CELL ANEMIA, LYMPHEDEMA, HEREDITARY, III, {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, BERGER DISEASE, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {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, ADAMS-OLIVER SYNDROME 3, LEPRECHAUNISM, FOLATE MALABSORPTION, HEREDITARY, 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, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, RUBINSTEIN-TAYBI SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, FILS SYNDROME, IMMUNODEFICIENCY 19, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, 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, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, 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, GM1-GANGLIOSIDOSIS, TYPE I, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, IMMUNODEFICIENCY 14, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 10, INTRINSIC FACTOR DEFICIENCY, 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}, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, HYALINE FIBROMATOSIS SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BRANCHIOOCULOFACIAL SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA 3, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, DIAMOND-BLACKFAN ANEMIA 7, GRISCELLI SYNDROME, TYPE 2, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SMITH-KINGSMORE SYNDROME

CYBA, TREX1, CD3D, FAS, IKBKG, MS4A2, GLB1, RAB27A, MYO5A, HBB, DSG1, BTK, G6PC3, CFD, B2M, RANBP2, IGHM, PRF1, POLE, TFRC, CREBBP, CD81, AMN, KRAS, IL10, CASP8, TFAP2A, CD40, IFNAR2, CD79A, BUB1B, MTOR, HLA-DRB1, LEP, PIK3CD, MSMO1, COPA, STAT1, VPS33B, C3, RBPJ, TMEM173, TSHR, KCNJ11, SLC22A4, WAS, TYK2, INS, CUBN, IRF7, MALT1, FASLG, NCF1, STIM1, LYST, SMAD9, MC2R, RORC, FOXP3, ITGB2, CYBB, ELANE, CARD11, EGFR, PIEZO1, IKBKB, IGKC, HAX1, HNF1A, ITPR3, SPINK5, TPI1, TLR2, LCK, GIF, ZAP70, NGF, PRKCD, GJB2, SLC46A1, JAGN1, PTRF, BCL10, SLC39A4, CXCR4, IL12B, NFKB1, STAT3, CACNA1C, INSR, FADD, PTPRC, ANTXR2, RPL11, ADAM17, HLA-C, ADA, SELP, VPS45, CD46, PIGR, ALG13, SKIV2L, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, IMMUNODEFICIENCY 21, GRISCELLI SYNDROME, TYPE 1, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, SELECTIVE T-CELL DEFECT, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSKERATOSIS CONGENITA, X-LINKED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, WISKOTT-ALDRICH SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {LEPROSY, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, 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, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 43, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY 35, SMITH-KINGSMORE SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

FASLG, NCF1, KCNJ11, NFKB1, CYBB, B2M, CASP8, SMAD9, VPS45, STAT1, MYO5A, CYBA, BUB1B, NTRK1, PMM2, CRIPT, LEP, CACNA1C, ITPR3, INSR, DKC1, MTOR, FADD, NGF, BTK, IL10, TNFAIP3, TBX21, SCN1A, CHAT, ABCC8, EGFR, IL12B, HNF1A, KRAS, ADA, ZAP70, CREBBP, WAS, TYK2, INS, TLR2, GATA2

{PSORIASIS SUSCEPTIBILITY 1}, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, 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, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, 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], 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 DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

NCF1, NGF, IL2RA, HLA-C, IKBKG, SLC29A3, CXCR4, STAT1, AP3B1, GATA2, HLA-DRB1, SPATA5, INSR, FOXP3, BTK, B2M, PSMB8, HLA-DQA1, EGFR, VPS33B, IRF8, IGKC, HLA-DQB1, SELP, LAMTOR2, STAT3, PTPRC, INS, CUBN, MTOR, PIK3R1

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {PSORIASIS SUSCEPTIBILITY 1}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, BERGER DISEASE, HERMANSKY-PUDLAK SYNDROME 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 43, RUBINSTEIN-TAYBI SYNDROME, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

PIGR, HLA-C, B2M, AP3B1, IL10, NGF, HLA-DRB1, CREBBP, HLA-DQB1, AIRE, HLA-DQA1, INS, TRAC

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {PSORIASIS SUSCEPTIBILITY 1}, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GRISCELLI SYNDROME, TYPE 1, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 8, SPLENIC HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ATAXIA-TELANGIECTASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEUKOCYTE ADHESION DEFICIENCY, 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 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 38, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, RUBINSTEIN-TAYBI SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RHEUMATOID ARTHRITIS, BERGER DISEASE, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, 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, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HERMANSKY-PUDLAK SYNDROME 2, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, SMITH-KINGSMORE SYNDROME, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FASLG, NCF1, IRF5, CYBA, CORO1A, VPS45, CYBB, PRKCD, COPA, CASP8, NKX2-5, ISG15, IL12B, ATM, STAT1, MYO5A, AIRE, AP3B1, IL21, HLA-DRB1, CD3E, IRF3, CACNA1C, MTOR, ITGB2, BTK, NGF, TRAC, B2M, IL10, IL2RA, HLA-C, VPS33B, HLA-DQB1, STX11, PDGFRA, TMEM173, EGFR, RAB27A, TSHR, SELP, ZAP70, IRF8, CREBBP, WAS, PIGR, HLA-DQA1, INS, TLR2, GATA2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, RHEUMATOID ARTHRITIS

HLA-DQB1, CASP8, HLA-DRB1, JAGN1, HLA-DQA1

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, {PSORIASIS SUSCEPTIBILITY 1}, GRISCELLI SYNDROME, TYPE 1, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 39, IMMUNODEFICIENCY 8, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, {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, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, IMMUNODEFICIENCY 43, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}

NCF1, CYBA, CYBB, IL2RA, IL10, HLA-C, STAT1, MYO5A, IRF7, HLA-DRB1, CD3E, CACNA1C, CD3D, BTK, B2M, PRKCD, EGFR, VPS33B, STX11, IL21, HLA-DQB1, SELP, HLA-DQA1, INS, TLR2, CORO1A

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, SELECTIVE T-CELL DEFECT, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ?IMMUNODEFICIENCY 37, ?IMMUNODEFICIENCY 22, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 8, IMMUNODEFICIENCY 11

LCK, EGFR, CARD11, CORO1A, ZAP70, CD3E, FCGR2A, PTPRC, CD81, BCL10

IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, 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, 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, {HASHIMOTO THYROIDITIS}, {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 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, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, RUBINSTEIN-TAYBI SYNDROME, 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, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, 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, HERMANSKY-PUDLAK SYNDROME 2, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, IMMUNODEFICIENCY 12, {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, WISKOTT-ALDRICH SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE I, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, IMMUNODEFICIENCY 10, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, ROUSSY-LEVY SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

C3AR1, CD3D, FAS, FERMT3, IKBKG, MS4A2, SLC35A1, KCNJ11, IRF7, INSR, SMPD1, BTK, IL4R, RANBP2, IGHM, TFRC, NCF4, MS4A1, PRF1, FOXN1, CREBBP, CD79B, HLA-DQA1, IL2RG, CD81, KRAS, HTR1A, IL10, CASP8, EGFR, CD40, IRF5, PSMB8, IFNAR2, CD79A, CD8A, CIITA, IL21, HLA-DRB1, CD3E, LEP, PIK3CD, COPA, ICOS, ORAI1, CD247, CD27, MC2R, IRF8, MPZ, C3, RBPJ, TMEM173, TNFRSF4, TSHR, SH2D1A, SLC22A4, WAS, TYK2, INS, IFNGR1, IGKC, MALT1, TNFRSF13B, STIM1, GLB1, SLC35A2, BLNK, CD40LG, RORC, FOXP3, MTOR, ITGB2, CYBB, ELANE, PRKDC, FASLG, TBX21, GJB2, HAX1, CUBN, ITPR3, THBD, STAT2, TPI1, SKIV2L, TLR2, LCK, NRAS, IFNGR2, NGF, PRKCD, B2M, IL17RA, CD46, TRAC, PTGER2, PMP22, NTRK1, TRAF3IP2, IL17RC, ATM, JAK3, AP3B1, IL12B, IRF3, STAT1, STAT3, CACNA1C, CD19, FADD, BLM, CXCR4, PTPRC, PLCG2, DEAF1, CD3G, PDGFRA, STX11, ADAM17, CTLA4, ABCC8, HLA-C, DNMT3B, SELP, ZAP70, IKBKB, CR2, PIGR, GATA2, PIK3R1

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

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

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}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, C1Q DEFICIENCY, IMMUNODEFICIENCY 19, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYALINE FIBROMATOSIS SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 33, WHIM SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 37, SELECTIVE T-CELL DEFECT, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, IMMUNODEFICIENCY 15, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NETHERTON SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 5, AGAMMAGLOBULINEMIA 1, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, LYMPHEDEMA, HEREDITARY, III, WISKOTT-ALDRICH SYNDROME, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 7, AGAMMAGLOBULINEMIA 3, GRISCELLI SYNDROME, TYPE 2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, TIMOTHY SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HYPERTHYROIDISM, NONAUTOIMMUNE, CHEDIAK-HIGASHI SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, GRISCELLI SYNDROME, TYPE 1, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 10, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CHILBLAIN LUPUS, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FASLG, STIM1, TREX1, ITPR3, NGF, C1QA, IL10, CIITA, EGFR, CD3D, TRAC, CD40, JAGN1, LYST, IKBKG, CXCR4, CD40LG, IRF7, KRAS, AP3B1, LEP, CD79A, HAX1, STAT1, INSR, SPATA5, IRF3, CACNA1C, HBB, COLQ, FOXP3, GJB2, MTOR, ITGB2, MSMO1, MC2R, RANBP2, G6PC3, MYO5A, CFD, COPA, B2M, WAS, ANTXR2, IGHM, RPL11, HLA-DRB1, PDGFRA, HLA-DQB1, IKBKB, BCL10, PIEZO1, MPO, RBPJ, TMEM173, HLA-C, RAB27A, TSHR, SELP, ZAP70, IRF8, SPINK5, BTK, STAT3, PIGR, HLA-DQA1, SKIV2L, INS, CD81, ALG13, IGKC, PIK3R1

IMMUNODEFICIENCY, COMMON VARIABLE, 12, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY

NFKB2, NFKB1, NFKBIA

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, {PSORIASIS SUSCEPTIBILITY 1}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, GRISCELLI SYNDROME, TYPE 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 19, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 33, WHIM SYNDROME, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, KAPPA LIGHT CHAIN DEFICIENCY, C3 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PEELING SKIN SYNDROME 1, IMMUNODEFICIENCY 15, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RHEUMATOID ARTHRITIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, [BLOOD GROUP, DUFFY SYSTEM], IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AGAMMAGLOBULINEMIA 1, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, WISKOTT-ALDRICH SYNDROME, AGAMMAGLOBULINEMIA 3, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, INTRINSIC FACTOR DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, GRISCELLI SYNDROME, TYPE 2, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {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}, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HERMANSKY-PUDLAK SYNDROME 2, TRANSCOBALAMIN II DEFICIENCY, HYPERTHYROIDISM, NONAUTOIMMUNE, ?IMMUNODEFICIENCY 22, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, FASLG, HAX1, KCNJ11, GIF, ZAP70, NGF, IL2RA, IL10, CIITA, LAMTOR2, EGFR, CD3D, PTGER2, CD79A, TCN2, MS4A2, CXCR4, STAT1, MYO5A, KRAS, CYBA, AP3B1, IKBKG, IGKC, HLA-DRB1, WAS, SPATA5, CACNA1C, LEP, FOXP3, CDSN, BTK, B2M, RANBP2, IGHM, ACKR1, CD40LG, VPS33B, STX11, CASP8, C3, TLR2, HLA-C, IL12B, RAB27A, TSHR, NTRK1, ABCC8, VPS45, IKBKB, CD40, VIPAS39, SELP, STAT3, TFRC, INS, IRF8, CUBN, IL21

C8 DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?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 34, MYCOBACTERIOSIS, X-LINKED, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, IMMUNODEFICIENCY 14, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ACRODERMATITIS ENTEROPATHICA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SICKLE CELL ANEMIA, {HASHIMOTO THYROIDITIS}, 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 DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, BERGER DISEASE, RUBINSTEIN-TAYBI SYNDROME, GRISCELLI SYNDROME, TYPE 3, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 19, ?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, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY 24, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, 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, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, GRISCELLI SYNDROME, TYPE 2, C2 DEFICIENCY, IMMUNODEFICIENCY 40, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, 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, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 10, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 6, 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}, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, AGAMMAGLOBULINEMIA 6, TRICHOHEPATOENTERIC SYNDROME 1, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, WISKOTT-ALDRICH SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE I, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, COMMON VARIABLE IMMUNODEFICIENCY 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, AGAMMAGLOBULINEMIA 2, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, JOUBERT SYNDROME 10, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], NIEMANN-PICK DISEASE, TYPE A, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, INTRINSIC FACTOR DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 5, ?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, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, HYPER-IGD SYNDROME, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ICHTHYOSIS WITH CONFETTI, ASPARTYLGLUCOSAMINURIA, C4A DEFICIENCY, C1Q DEFICIENCY, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, 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, BRANCHIOOCULOFACIAL SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, COMPLEMENT FACTOR I DEFICIENCY, MASP2 DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, 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, LYMPHOPROLIFERATIVE SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MYOTONIC DYSTROPHY 2, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, NETHERTON SYNDROME, TRANSCOBALAMIN II DEFICIENCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, 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}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

CYBA, TREX1, CD3D, LAMTOR2, NAA10, TPI1, SPATA5, FAS, FERMT3, IKBKG, ACP5, IRF7, GLB1, RAB27A, NBN, PMM2, GCK, INSR, AK2, HBB, FCGR3A, CTPS1, SMPD1, BTK, CFD, DOCK2, PIK3CD, MAN2B1, IL2RA, LRBA, IGHM, TFRC, MASP2, IGLL1, MPO, POLE, NCF4, MS4A1, PRF1, ERCC2, C1QC, CECR1, CNBP, CREBBP, UMPS, RBCK1, HLA-DQA1, IL2RG, RBPJ, SERPING1, AMN, GH1, KRAS, NFKB2, HTR1A, IL10, CASP8, EGFR, TFAP2A, CD40, ISG15, IFNAR2, CD79A, CD8A, SEMA3E, TTC37, BUB1B, CIITA, IL21, CHAT, CD79B, CD3E, LEP, SLC39A4, COPA, MSMO1, GFPT1, NFKBIA, C1R, ICOS, PSMB8, C2, CD247, CD27, C4A, CD40LG, VPS33B, MLPH, IRF8, PDGFRA, NCF2, C3, CD81, TMEM173, TSHR, SH2D1A, ITK, STX11, STAT3, TYK2, INS, IFNGR1, MYO5A, MALT1, FCGR2A, NCF1, LYST, DKC1, CDSN, CFHR3, BLNK, IRF5, SMAD9, AGA, MVK, HLA-DRB1, PADI4, NLRC4, PNP, RORC, FOXN1, CFH, FOXP3, MTOR, ITGB2, C1QA, CYBB, ELANE, PRKDC, B2M, CARD11, CFI, WAS, C1QB, HLA-C, TBX21, IGKC, RPSA, DSG1, MCM4, HAX1, HNF1A, CUBN, ITPR3, SPINK5, ADA, THBD, STAT2, TRAC, NFKBIL1, SKIV2L, ZAP70, TLR2, LCK, NRAS, JAGN1, CORO1A, GIF, C8A, NGF, PRKCD, IL4R, GJB2, CD46, PTGER2, CASP10, NTRK1, TRAF3IP2, PEPD, ATM, TNFAIP3, DNASE1, AP3B1, IL12B, IRF3, STAT1, NFKB1, NLRP3, ZBTB24, CACNA1C, CD19, FADD, CFB, RANBP2, BLM, CXCR4, PLCG2, PTPRC, RPL11, JAK3, OFD1, VIPAS39, MBL2, ADAM17, TCN2, CTLA4, ABCC8, FASLG, KRT10, DNMT3B, CFHR1, SELP, VPS45, IKBKB, CR2, PIGR, C8B, GATA2, PIK3R1

C8 DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?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, GRISCELLI SYNDROME, TYPE 2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, IMMUNODEFICIENCY 14, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SICKLE CELL ANEMIA, {HASHIMOTO THYROIDITIS}, AGAMMAGLOBULINEMIA, X-LINKED 1, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, IMMUNODEFICIENCY 44, 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-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, BERGER DISEASE, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, OROTIC ACIDURIA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), 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}, HELSMOORTEL-VAN DER AA SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY 19, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, 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 36, RUBINSTEIN-TAYBI SYNDROME, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, C2 DEFICIENCY, DYSKERATOSIS CONGENITA, X-LINKED, KENNY-CAFFEY SYNDROME, TYPE 1, MUCKLE-WELLS SYNDROME, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, IMMUNODEFICIENCY 33, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, 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, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, RIDDLE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 6, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, AGAMMAGLOBULINEMIA 6, TRICHOHEPATOENTERIC SYNDROME 1, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, WISKOTT-ALDRICH SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, DIAMOND-BLACKFAN ANEMIA 7, DIGEORGE SYNDROME, ?IMMUNODEFICIENCY 45, MYASTHENIC SYNDROME, CONGENITAL, 5, WHIM SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, COMMON VARIABLE IMMUNODEFICIENCY 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, AGAMMAGLOBULINEMIA 2, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, JOUBERT SYNDROME 10, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, NIEMANN-PICK DISEASE, TYPE A, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 10, IMMUNODEFICIENCY, COMMON VARIABLE, 13, 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 13, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ICHTHYOSIS WITH CONFETTI, VELOCARDIOFACIAL SYNDROME, C1Q DEFICIENCY, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, 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, BRANCHIOOCULOFACIAL SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, ROUSSY-LEVY SYNDROME, ?IMMUNODEFICIENCY 37, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MYOTONIC DYSTROPHY 2, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, AICARDI-GOUTIERES SYNDROME 4, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

CCBE1, CYBA, HBB, CD3D, CASP10, NAA10, TPI1, RAG1, FAS, FERMT3, IKBKG, MS4A2, RNASEH2A, IRF7, IKZF1, KCNJ11, RAB27A, MYO5A, INSR, AK2, TREX1, COLQ, MCM4, DSG1, CDSN, BTK, CFD, IL4R, AICDA, RANBP2, IGHM, NCF4, TFRC, MBL2, IGLL1, NBN, POLE, COG6, PRF1, ERCC2, HELLS, SERPING1, CNBP, CD40, UMPS, RBCK1, HLA-DQA1, IL2RG, RBPJ, C1QC, CHD7, GH1, KRAS, NFKB2, RBM8A, COPA, CASP8, EGFR, NKX2-5, CREBBP, ISG15, PSMB8, IFNAR2, CD79A, CD8A, SEMA3E, PTRF, TTC37, BUB1B, CIITA, IL21, CD79B, CD3E, LEP, PIK3CD, XRCC4, MSMO1, GFPT1, IL10, ORAI1, C2, CD247, NFKBIA, HLA-DRB1, VPS33B, IRF8, GLIS3, MPZ, C3, CD81, FCGR2A, TMEM173, CLPB, TSHR, SH2D1A, FBXL4, STX11, DKC1, TYK2, INS, ABCC8, IGKC, MALT1, TBX1, NCF1, STIM1, NCF2, LYST, SMPD1, BLNK, ZAP70, SMAD9, C8A, IL12RB1, C1R, MC2R, NLRC4, GCK, FOXP3, MTOR, ITGB2, C1QA, CYBB, ELANE, PRKDC, CARD11, WAS, C1QB, HLA-C, TBX21, GJB2, RPSA, SCN1A, GFI1, LMNB2, IL12B, HAX1, HNF1A, DNMT3B, ITPR3, TFAP2A, STAT2, TRAC, SKIV2L, STAT3, TLR2, SELP, LCK, NRAS, IRF5, CORO1A, ITK, NGF, CD40LG, PRKCD, B2M, IL17RA, RNF168, JAGN1, PMP22, RORC, NTRK1, FCN3, PEPD, ATM, AP3B1, BCL10, IRF3, STAT1, NFKB1, CR2, TBCE, CACNA1C, CD19, FADD, CD244, BLM, CXCR4, PTPRC, PLCG2, DEAF1, CD3G, SP110, RPL11, OFD1, HLA-DQB1, LAMTOR2, UNC119, CTLA4, FASLG, KRT10, ADNP, NHP2, VPS45, IKBKB, GTF2H5, NLRP3, PIGR, C8B, GATA2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, AGAMMAGLOBULINEMIA 6, IMMUNODEFICIENCY 15, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, ?IMMUNODEFICIENCY 25, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, IMMUNODEFICIENCY 42, 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, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEUKOCYTE ADHESION DEFICIENCY, CD8 DEFICIENCY, FAMILIAL, SELECTIVE T-CELL DEFECT, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, BERGER DISEASE, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], 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, IMMUNODEFICIENCY 36, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1