IMMUNOLOGY

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, C3 DEFICIENCY, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, COMPLEMENT FACTOR I DEFICIENCY, MASP2 DEFICIENCY, MUCKLE-WELLS SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {LEPROSY, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, C4A DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, HTR1A, IL10, CASP8, C1QC, IL12B, C1R, CD40LG, NLRC4, IKBKG, IGKC, STAT1, NFKB1, CD46, LEP, PIK3CD, ITGB2, C1QA, ELANE, B2M, C2, CFI, C1QB, C4A, EGFR, MASP2, IKBKB, C3, FASLG, SERPING1, IRF8, CD40, SELP, NLRP3, STAT3, TLR2, IRF3

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY 33, WHIM SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 36, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

CXCR4, STAT1, NLRC4, IFNGR2, IFNGR1, HLA-DRB1, PRKCD, IL10, CD40, IKBKG, EGFR, CR2, CASP8, WAS, NCF1, IKBKB, TLR2, PIK3R1, NFKB1

C8 DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, 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, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, 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}, 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, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, 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, RUBINSTEIN-TAYBI SYNDROME, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, IMMUNODEFICIENCY 40, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, 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, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, MYELOPEROXIDASE DEFICIENCY, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, TENORIO SYNDROME, 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}, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?IMMUNODEFICIENCY 37, {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, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, MYOTONIC DYSTROPHY 2, BERGER DISEASE, IMMUNODEFICIENCY 10, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 5, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {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}, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, ?IMMUNODEFICIENCY 13, AGAMMAGLOBULINEMIA 6, C4A DEFICIENCY, C1Q DEFICIENCY, AGAMMAGLOBULINEMIA 4, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, COMPLEMENT FACTOR I DEFICIENCY, MASP2 DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 4, 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, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY 36, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, 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, TNFRSF13B, CNBP, IFIH1, FAS, FERMT3, IKBKG, MS4A2, IRF7, CD19, TREX1, BTK, CFD, DOCK2, AICDA, RANBP2, IGHM, TFRC, MASP2, MPO, NCF4, MS4A1, PRF1, ERCC2, SERPING1, CREBBP, CD79B, HLA-DQA1, RBPJ, C1QC, XRCC4, KRAS, HTR1A, IL10, CASP8, HLA-C, CD40, IRF5, IFNAR2, CD79A, CD8A, C2, CIITA, IL21, HLA-DRB1, TNFRSF13C, CD3E, LEP, PIK3CD, RFXAP, NFKBIA, ICOS, ORAI1, CARD9, CD247, CD27, C4A, STAT1, IRF8, NCF2, C3, CD81, TMEM173, TSHR, SH2D1A, ITK, STAT3, DEAF1, INS, IFNGR1, IGKC, MALT1, FCGR2A, NCF1, STIM1, UNC119, IL7R, IL2RA, BLNK, INSR, C1R, CD40LG, NLRC4, NFKB2, CFH, FOXP3, EGFR, ITGB2, C1QA, CYBB, TPI1, PRKDC, B2M, CARD11, CFI, WAS, C1QB, FASLG, TBX21, IL12B, HNF1A, DNMT3B, ITPR3, THBD, STAT2, ELANE, NFKBIL1, TLR2, SELP, LCK, NRAS, ISG15, IFNGR2, CORO1A, ZAP70, NGF, PRKCD, IL4R, CD46, TRAC, CASP10, NTRK1, RFXANK, ATM, TNFAIP3, BCL10, IRF3, NFKB1, NLRP3, RFX5, FADD, CFB, CD244, CXCR4, FCGR2B, PTPRC, PLCG2, TYK2, CD3G, RPL11, JAK3, FCGR3A, STX11, MBL2, ADAM17, CTLA4, ABCC8, HLA-DQB1, RNF125, NHP2, C8A, IKBKB, CR2, PIGR, C8B, MTOR, PIK3R1

C8 DEFICIENCY, TYPE I, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, C3 DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, C8 DEFICIENCY, TYPE II, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMPLEMENT FACTOR D DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, COMPLEMENT FACTOR I DEFICIENCY, MASP2 DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 7, C1R/C1S DEFICIENCY, COMBINED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, KAPPA LIGHT CHAIN DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, COMPLEMENT FACTOR H DEFICIENCY, C4A DEFICIENCY, ?IMMUNODEFICIENCY 22, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, COMMON VARIABLE, 6, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

LCK, C3AR1, NGF, CD46, C1R, IGKC, THBD, LEP, C1QA, CFB, CFD, C2, CFI, C1QB, C4A, CFH, MBL2, MASP2, C3, EGFR, SERPING1, C8A, CD40, CR2, C8B, INS, CD81, C1QC

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, IMMUNODEFICIENCY 43, ?IMMUNODEFICIENCY 22, HYPERTHYROIDISM, NONAUTOIMMUNE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 39, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, CD8 DEFICIENCY, FAMILIAL, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {PSORIASIS SUSCEPTIBILITY 1}

LCK, STAT1, B2M, TSHR, DNMT3B, IL10, IRF7, HLA-DRB1, HLA-C, CD40, HLA-DQB1, LEP, RFXANK, HLA-DQA1, CD8A, CIITA, RFXAP, TRAC, RFX5

IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 36, SMITH-KINGSMORE SYNDROME

EGFR, KRAS, IKBKG, NGF, NFKB1, STAT1, CD40, STAT3, CREBBP, PIK3CD, IKBKB, MTOR, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?IMMUNODEFICIENCY 45, WHIM SYNDROME, SELECTIVE T-CELL DEFECT, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 25, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, IMMUNODEFICIENCY 44, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, LEUKOCYTE ADHESION DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AGAMMAGLOBULINEMIA, X-LINKED 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, IMMUNODEFICIENCY 36, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 20, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2

LCK, FASLG, NRAS, IFNGR2, KRAS, IL2RA, IL10, CASP8, PTPRC, PRF1, IRF5, FAS, IFNAR2, IL12B, CXCR4, STAT1, IRF7, FOXP3, PIK3CD, ITGB2, BTK, B2M, PLCG2, TYK2, CD247, PRKCD, CD244, HLA-C, FCGR3A, EGFR, SH2D1A, ZAP70, CD40, JAK3, STAT3, STAT2, DEAF1, IFNGR1, PIK3R1

{ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {CELIAC DISEASE, SUSCEPTIBILITY TO}

HLA-DQB1, IL10, HLA-DRB1, CD40LG, CD40, MS4A2, HLA-DQA1, TRAC

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 43, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}

HLA-DQB1, FASLG, CD40LG, B2M, IL10, IL2RA, HLA-DRB1, CD40, HLA-C, PRF1, HLA-DQA1, FAS, IL12B, TRAC

AGAMMAGLOBULINEMIA 6, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 45, WHIM SYNDROME, SELECTIVE T-CELL DEFECT, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 30, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 44, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, 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 DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, RUBINSTEIN-TAYBI SYNDROME, ?IMMUNODEFICIENCY 22, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, SMITH-KINGSMORE SYNDROME, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, IRF5, IFNGR2, GH1, IL7R, IL2RA, IL10, EGFR, PRF1, ISG15, IFNAR2, IL12B, IL12RB1, CXCR4, CD40LG, IRF7, BCL10, MTOR, STAT3, IRF3, LEP, FOXP3, PIK3CD, NGF, BTK, IL4R, C2, PRKCD, IL21R, STAT1, INS, IRF8, IL21, HLA-C, SELP, ZAP70, CREBBP, CD40, JAK3, CD79B, STAT2, TYK2, IL2RG, IFNGR1, GATA2, PIK3R1

SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, WHIM SYNDROME, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY, COMMON VARIABLE, 4, BERGER DISEASE, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, C3 DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY, COMMON VARIABLE, 2, KAPPA LIGHT CHAIN DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}

CXCR4, IL10, PTPRC, ZAP70, IGKC, HLA-DRB1, TNFRSF13C, ICOS, CD40, HLA-DQB1, CD40LG, AICDA, HLA-DQA1, FAS, C3, TNFRSF13B, PIGR

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {PSORIASIS SUSCEPTIBILITY 1}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?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, LEUKOCYTE ADHESION DEFICIENCY, CD8 DEFICIENCY, FAMILIAL, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ROUSSY-LEVY SYNDROME, RHEUMATOID ARTHRITIS, {HASHIMOTO THYROIDITIS}, WHIM SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 5, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}

LCK, FASLG, ICOS, HLA-C, IL10, CD8A, CIITA, PMP22, CXCR4, STAT1, HLA-DRB1, ITGB2, TRAC, B2M, HLA-DQA1, CD247, CD40LG, HLA-DQB1, MPZ, CTLA4, MS4A1, EGFR, HNF1A, SELP, ZAP70, CD40, PTPRC, CD81, PIK3R1

IMMUNODEFICIENCY 14, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, WHIM SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ?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, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], 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}, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, IMMUNODEFICIENCY 36, SMITH-KINGSMORE SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

CXCR4, LCK, NCF1, PLCG2, PIK3CD, CYBA, WAS, SELP, ITK, EGFR, INS, STAT3, RANBP2, PIK3R1, NCF2, MTOR, ITGB2, HNF1A, CD81, CYBB, NCF4

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY 15, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 8, C3 DEFICIENCY, {PSORIASIS SUSCEPTIBILITY 1}, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, C1R/C1S DEFICIENCY, COMBINED, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, LYMPHOPROLIFERATIVE SYNDROME 1, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 20, 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, MYELOPEROXIDASE DEFICIENCY, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, IMMUNODEFICIENCY 43, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

NCF1, CYBA, ITK, CYBB, B2M, TRAC, C1R, STAT1, CORO1A, HLA-DRB1, ITGB2, C1QA, BTK, ELANE, FCGR2B, IL10, HLA-C, MBL2, HLA-DQB1, STX11, FCGR3A, NCF2, C3, MPO, NCF4, TMEM173, EGFR, TSHR, SELP, ZAP70, IKBKB, FCGR2A, TFRC, HLA-DQA1, INS, TLR2, IL21

{PSORIASIS SUSCEPTIBILITY 1}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 33, WHIM SYNDROME, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, C2 DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, LEUKOCYTE ADHESION DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 46, HYPERTHYROIDISM, NONAUTOIMMUNE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 36, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

NCF1, KRAS, PRKCD, IL10, HTR1A, NTRK1, CXCR4, STAT1, IKBKG, NFKB2, HLA-DRB1, NFKB1, INSR, ITGB2, COPA, B2M, C2, IL2RA, NFKBIA, HLA-C, PDGFRA, INS, EGFR, TSHR, VPS45, CREBBP, STAT3, TFRC, IL2RG, RBPJ, IRF7, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 15, GRISCELLI SYNDROME, TYPE 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, LEPRECHAUNISM, ATAXIA-TELANGIECTASIA, 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 LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, IMMUNODEFICIENCY 14, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, OMENN SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY 36, SMITH-KINGSMORE SYNDROME

NRAS, KRAS, CASP8, CREBBP, RAG1, NGF, CASP10, IL12B, ATM, MTOR, INSR, PIK3CD, IL7R, G6PC3, IL10, NFKBIA, EGFR, IKBKB, FASLG, RAG2, CD40, STAT3, INS, MYO5A, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY 15, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, AGAMMAGLOBULINEMIA 4, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, SMITH-KINGSMORE SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 14, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, IMMUNODEFICIENCY 44, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 20, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, {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, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, NCF1, IFNGR2, CYBB, PRKCD, IL4R, BLNK, CREBBP, ISG15, IFNAR2, IL12B, STAT1, CYBA, IKBKG, NFKB2, HLA-DRB1, NFKB1, FCGR2A, CD3E, LEP, PIK3CD, NGF, BTK, B2M, PLCG2, IL10, WAS, NFKBIA, ACP5, FCGR3A, IKBKB, CASP8, NCF2, TLR2, NCF4, FCGR2B, HLA-C, TSHR, ITK, CD40, STAT3, STAT2, TYK2, INS, IFNGR1, MTOR, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, LEPRECHAUNISM, WHIM SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, FILS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY 36, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SMITH-KINGSMORE SYNDROME

NCF1, IFNGR2, CYBB, PRKCD, CASP8, ISG15, IL12B, CXCR4, CYBA, GCK, NFKB1, LEP, INSR, PIK3CD, POLE, PLCG2, TFRC, NCF2, EGFR, CREBBP, STAT3, INS, IFNGR1, MTOR, PIK3R1

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {PSORIASIS SUSCEPTIBILITY 1}, {HASHIMOTO THYROIDITIS}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 43, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

FASLG, HLA-DRB1, B2M, IL10, IL12B, NGF, HLA-C, CD40, HLA-DQB1, PRF1, HLA-DQA1, FAS, CTLA4, INS, TRAC

IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, ?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, AGAMMAGLOBULINEMIA 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, C3 DEFICIENCY, ATAXIA-TELANGIECTASIA, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, ?IMMUNODEFICIENCY 37, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY, COMMON VARIABLE, 7, RHEUMATOID ARTHRITIS, KAPPA LIGHT CHAIN DEFICIENCY, {LEPROSY, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, TNFRSF13C, BLNK, BCL10, ATM, STAT1, IRF7, IKBKG, IRF3, NFKB1, CR2, TNFAIP3, BTK, ELANE, PRKDC, IL10, PLCG2, CARD11, CD247, NFKBIA, CD40LG, IKBKB, IGKC, C3, EGFR, ERCC2, ZAP70, CD40, STAT3, PIK3R1, PTPRC, TLR2, NFKB2, MALT1

PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, ATAXIA-TELANGIECTASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 33, WHIM SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 40, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 44, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], 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, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

NCF1, NGF, PRKCD, NRAS, HTR1A, IKBKG, CXCR4, STAT1, IL12B, MTOR, NFKB1, THBD, INSR, FOXP3, PIK3CD, DOCK2, KRAS, ATM, IL4R, IL10, WAS, NFKBIA, JAK3, IKBKB, NCF4, EGFR, ITK, TBX21, STAT3, STAT2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 42, C3 DEFICIENCY, IMMUNODEFICIENCY 15, ?IMMUNODEFICIENCY 45, KAPPA LIGHT CHAIN DEFICIENCY, WHIM SYNDROME, ?IMMUNODEFICIENCY 16, SELECTIVE T-CELL DEFECT, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 44, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, 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-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CANDIDIASIS, FAMILIAL, 9, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, ?CANDIDIASIS, FAMILIAL, 8, LYMPHOPROLIFERATIVE SYNDROME 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYELOPEROXIDASE DEFICIENCY, {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, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, COMMON VARIABLE, 2, RUBINSTEIN-TAYBI SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, SMITH-KINGSMORE SYNDROME

FASLG, TNFRSF13B, IFNGR2, IRF8, ITPR3, IL7R, TNFRSF13C, IL10, CASP8, STX11, EGFR, PRF1, FAS, IFNAR2, RORC, IL12B, TRAF3IP2, IL17RC, CXCR4, CD40LG, IRF7, HAX1, THBD, MTOR, IL21, LEP, FOXP3, IL12RB1, GATA2, TNFRSF4, FADD, CD27, TPI1, FOXN1, IL4R, CREBBP, C2, IL2RA, NFKBIA, IL21R, STAT1, PDGFRA, TBX21, IL17RA, PRKCD, C3, MPO, HLA-C, DNMT3B, SELP, ZAP70, IKBKB, CD40, JAK3, STAT3, STAT2, TYK2, IL2RG, GH1, IFNGR1, IGKC, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY 15, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 8, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, SMITH-KINGSMORE SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, IMMUNODEFICIENCY 44, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, LYMPHOPROLIFERATIVE SYNDROME 1, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 20, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ?CHARGE SYNDROME, CHARGE SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, {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, AGAMMAGLOBULINEMIA 4, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, HYPERTHYROIDISM, NONAUTOIMMUNE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, FASLG, NRAS, IRF5, IFNGR2, CYBB, PRKCD, NCF1, BLNK, IL4R, CREBBP, ISG15, NGF, IFNAR2, CIITA, SEMA3E, CXCR4, STAT1, KRAS, CYBA, IL12B, CORO1A, HLA-DRB1, NFKB1, FCGR2A, CD3E, LEP, PIK3CD, MTOR, SP110, TLR2, B2M, PLCG2, IL10, WAS, NFKBIA, EGFR, FCGR3A, IKBKG, IKBKB, CASP8, NCF2, RBPJ, NCF4, FCGR2B, HLA-C, DNMT3B, TSHR, ITK, IRF8, CD40, STAT3, ACP5, STAT2, BTK, TYK2, INS, IFNGR1, NFKB2, PIK3R1

{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, IMMUNODEFICIENCY 15, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, TIMOTHY SYNDROME, LEPRECHAUNISM, IMMUNODEFICIENCY 36, {LEPROSY, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

KCNJ11, LEP, GCK, PRKCD, INSR, CACNA1C, SELP, IKBKB, PIK3CD, INS, ABCC8, TLR2, BCL10, MTOR, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, C3 DEFICIENCY, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

HLA-C, NFKB2, NLRC4, LEP, IL10, IKBKG, NFKBIA, CD40LG, NFKB1, STAT1, CASP8, CD46, IKBKB, IGKC, C3, ITGB2, TLR2, IL12B, NGF, ELANE

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, 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 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, C3 DEFICIENCY, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY 19, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, SMITH-KINGSMORE SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

LCK, IFNGR2, NGF, PRKCD, IL10, CASP8, CD3D, PRF1, FAS, IKBKG, ATM, STAT1, IL12B, MTOR, NFKB1, CD3E, INSR, PIK3CD, FADD, C1QB, TLR2, C1R, B2M, CD3G, CD247, NFKBIA, FASLG, IKBKB, C3, C1QA, HLA-C, C1QC, IRF8, CD40, STAT3, BTK, TYK2, IFNGR1, PIK3R1

AGAMMAGLOBULINEMIA, X-LINKED 1, ATAXIA-TELANGIECTASIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RHEUMATOID ARTHRITIS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SICKLE CELL ANEMIA, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

ATM, FASLG, CD40LG, PRKDC, HBB, IL10, BTK, FAS, IL12B, PIK3R1

IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, KAPPA LIGHT CHAIN DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, C3 DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 20, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, {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 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, NCF1, IFNGR2, CYBB, IL4R, CIITA, STAT1, CYBA, IL12B, IGKC, HLA-DRB1, NFKB1, STAT3, ITGB2, NGF, FCGR2B, IL10, WAS, NFKBIA, CD40LG, FCGR3A, IRF8, NCF2, C3, IFNGR1, NCF4, HLA-DQB1, TLR2, IKBKG, FCGR2A, HLA-DQA1, CD81, IRF7

C8 DEFICIENCY, TYPE I, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ATAXIA-TELANGIECTASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEUKOCYTE ADHESION DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, C8 DEFICIENCY, TYPE II, IMMUNODEFICIENCY 14, COMPLEMENT FACTOR D DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 43, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

NGF, PRKCD, IL10, CASP8, IL12B, ATM, CD40LG, MTOR, NFKB1, CFD, LEP, PIK3CD, ITGB2, ELANE, PRKDC, B2M, C8B, HLA-DRB1, EGFR, SELP, C8A, STAT3, TYK2, TLR2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {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, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 43, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY, COMMON VARIABLE, 7, SMITH-KINGSMORE SYNDROME, RHEUMATOID ARTHRITIS, LYMPHOPROLIFERATIVE SYNDROME 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 35, {LEPROSY, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, IRF5, NGF, IL10, CASP8, CREBBP, ISG15, CIITA, CXCR4, STAT1, IRF7, IKBKG, NFKB2, HLA-DRB1, NFKB1, CR2, TNFAIP3, CD19, PIK3CD, MTOR, CD27, TRAC, PRKDC, B2M, PLCG2, PTPRC, NFKBIA, HLA-C, HLA-DQB1, IKBKB, BLNK, HLA-DQA1, TLR2, EGFR, ERCC2, ZAP70, CD40, JAK3, STAT3, BTK, TYK2, RBPJ, IRF3, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, NIEMANN-PICK DISEASE, TYPE A, HYPER-IGE RECURRENT INFECTION SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY, COMMON VARIABLE, 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, [BLOOD GROUP, DUFFY SYSTEM], NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, KAPPA LIGHT CHAIN DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {LEPROSY, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 43, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

LCK, FASLG, IL10, B2M, SMPD1, HBB, NGF, CD40LG, ACKR1, LEP, CASP8, SELP, CD46, IGKC, CD40, ITGB2, STAT3, CD81, IL12B, TLR2, ELANE

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 33, WHIM SYNDROME, SELECTIVE T-CELL DEFECT, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 35, 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, IMMUNODEFICIENCY 44, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

FASLG, IFNGR2, NGF, PRKCD, CASP8, CREBBP, CIITA, CXCR4, CD40LG, IRF7, IL12B, HAX1, HLA-DRB1, NFKB1, LEP, PIK3CD, MTOR, KRAS, ELANE, PRKDC, IL10, HLA-DQA1, NFKBIA, STAT1, IKBKG, IKBKB, TLR2, HLA-DQB1, ZAP70, IRF8, CD40, STAT3, STAT2, TYK2, IFNGR1, IRF3, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, BLOOM SYNDROME, AICARDI-GOUTIERES SYNDROME 7, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

FASLG, ISG15, IFNGR2, NGF, PRKCD, IL10, CASP8, OAS1, PRF1, IFIH1, FAS, IFNAR2, IL12B, CXCR4, STAT1, IRF7, NLRC4, BCL10, IGKC, HLA-DRB1, NFKB1, NLRP3, PIK3CD, MTOR, FADD, BLM, B2M, CREBBP, HLA-DQA1, NFKBIA, HLA-DQB1, IKBKG, IKBKB, TLR2, EGFR, ZAP70, IRF8, CD40, CIITA, STAT3, STAT2, BTK, TYK2, INS, IFNGR1, IRF3, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 15, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, HYPER-IGE RECURRENT INFECTION SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, MYELOPEROXIDASE DEFICIENCY, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, SMITH-KINGSMORE SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ATAXIA-TELANGIECTASIA

ATM, FASLG, NFKB1, NFKBIA, PRKCD, IKBKB, CASP8, IKBKG, STAT3, BCL10, PIK3CD, MTOR, FAS, MPO, CASP10, NTRK1, NGF, PIK3R1, FADD

IMMUNODEFICIENCY 14, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 15, ?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ATAXIA-TELANGIECTASIA, 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, 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, COMPLEMENT FACTOR D DEFICIENCY, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, FILS SYNDROME, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY, COMMON VARIABLE, 4, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, LEUKOCYTE ADHESION DEFICIENCY, RHEUMATOID ARTHRITIS, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, 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, IMMUNODEFICIENCY 36, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, NRAS, NGF, CD40LG, TNFRSF13C, B2M, EGFR, CD3D, PRF1, CIITA, ATM, STAT1, IRF7, LEP, BUB1B, IKBKG, IGKC, HLA-DRB1, NFKB1, CFD, CD3E, IRF3, INSR, FOXP3, PIK3CD, MTOR, ITGB2, POLE, KRAS, TRAC, CXCR4, IL10, CREBBP, HLA-DQA1, CD3G, CD247, IL2RA, NFKBIA, HLA-C, PDGFRA, IL2RG, IKBKB, GATA2, GFI1, HLA-DQB1, ZAP70, IRF8, CD40, JAK3, STAT3, PTPRC, INS, NFKB2, PIK3R1

AGAMMAGLOBULINEMIA 6, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, WISKOTT-ALDRICH SYNDROME, AGAMMAGLOBULINEMIA 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPLENIC HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, C3 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 44, 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, ADAMS-OLIVER SYNDROME 3, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CANDIDIASIS, FAMILIAL, 9, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, {LEPROSY, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY, COMMON VARIABLE, 7, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 36, SMITH-KINGSMORE SYNDROME, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FASLG, NRAS, IL7R, PRKCD, IL10, BLNK, PRF1, FAS, IFNAR2, IKBKG, IL17RC, CXCR4, CR2, STAT1, IRF3, NFKB1, INSR, LEP, PIK3CD, MTOR, NGF, G6PC3, PRKDC, IL4R, WAS, JAK3, PDGFRA, INS, IKBKB, RPSA, C3, TLR2, CD19, EGFR, KRAS, GH1, CREBBP, CD40, CD79B, STAT2, BTK, IL2RA, IL2RG, STAT3, RBPJ, IRF7, PIK3R1

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 38, ?IMMUNODEFICIENCY 39, IMMUNODEFICIENCY 44, IMMUNODEFICIENCY, COMMON VARIABLE, 7, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {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}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

NRAS, IRF5, KRAS, OAS1, CREBBP, ISG15, IFNAR2, CIITA, CXCR4, STAT1, IRF7, IKBKG, IRF3, NFKB1, CR2, PIK3CD, IL10, NFKBIA, PRF1, IKBKB, TLR2, EGFR, HNF1A, CD40, STAT3, STAT2, TYK2, INS, CD81, MTOR, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, IMMUNODEFICIENCY 33, WHIM SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 38, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 44, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {LEPROSY, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

NRAS, ISG15, KRAS, PRKCD, CASP8, PRF1, IFIH1, FAS, CASP10, IKBKG, CXCR4, STAT1, IRF3, NFKB1, PIK3CD, MTOR, FADD, NGF, IL10, NFKBIA, EGFR, IKBKB, IRF5, FASLG, CREBBP, CD40, STAT3, STAT2, INS, TLR2, IRF7, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 45, WHIM SYNDROME, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 44, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, 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 19, 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, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, {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, IMMUNODEFICIENCY 46, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35, SMITH-KINGSMORE SYNDROME, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FASLG, ISG15, IFNGR2, CD3D, PRKCD, IL4R, CASP8, OAS1, PRF1, IFIH1, FAS, IFNAR2, IL12B, CXCR4, STAT1, BCL10, IRF3, NFKB1, CD46, CD3E, TNFAIP3, PIK3CD, MTOR, FADD, BTK, B2M, PTPRC, CD3G, IL10, IL2RA, NFKBIA, CD40LG, IRF8, TLR2, IRF5, FCGR2B, EGFR, SH2D1A, CREBBP, CD40, JAK3, STAT3, STAT2, TFRC, TYK2, IL2RG, IFNGR1, IRF7, PIK3R1

IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, 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, C8 DEFICIENCY, TYPE II, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 30, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, {HASHIMOTO THYROIDITIS}, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY 32A, 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, CD8 DEFICIENCY, FAMILIAL, RUBINSTEIN-TAYBI SYNDROME, C2 DEFICIENCY, IMMUNODEFICIENCY 44, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, 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, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, C8 DEFICIENCY, TYPE I, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, 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, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, LYMPHOPROLIFERATIVE SYNDROME 1, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, BERGER DISEASE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, C1Q DEFICIENCY, AGAMMAGLOBULINEMIA 4, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, MASP2 DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 4, 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, OMENN SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, C4A DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, {CELIAC DISEASE, SUSCEPTIBILITY TO}

CD3D, RAG1, FAS, CD8A, IKBKG, MS4A2, ACP5, IRF7, RFX5, BTK, IL4R, AICDA, IGHM, IL21R, MASP2, IGLL1, MPO, PRF1, UNG, SERPING1, CREBBP, HLA-DQA1, IL2RG, CD81, C1QC, TNFRSF13C, IL10, CD40, CD79A, DCLRE1C, CIITA, IL21, CD3E, LEP, PIK3CD, RFXAP, ICOS, ORAI1, C2, CD247, NFKBIA, C4A, HLA-DRB1, IRF8, C3, TSHR, ITK, STAT3, TYK2, INS, IFNGR1, IGKC, PIGR, FASLG, TNFRSF13B, IL7R, IL2RA, BLNK, IL12RB1, C1R, CD40LG, RORC, FOXP3, ITGB2, C1QA, TRAC, PRKDC, C1QB, EGFR, IKBKB, RAG2, XRCC4, STAT2, ELANE, NFKBIL1, TLR2, AIRE, LCK, IFNGR2, ZAP70, NGF, B2M, IL17RA, RFXANK, ATM, JAK3, IL12B, IRF3, STAT1, NFKB1, FCGR2A, CD19, CXCR4, PTPRC, FCGR3A, HLA-DQB1, CTLA4, HLA-C, DNMT3B, ADA, SELP, C8A, TBX21, CR2, C8B, PIK3R1

IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, KAPPA LIGHT CHAIN DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 42, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 30, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, LYMPHOPROLIFERATIVE SYNDROME 1, RHEUMATOID ARTHRITIS, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], 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, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

IFNGR2, NGF, IL4R, IL17RA, CIITA, IL12RB1, STAT1, IL12B, IGKC, NFKB1, FOXP3, TRAC, IL10, IL21R, HLA-DRB1, TBX21, IL21, TLR2, HLA-DQB1, ITK, CREBBP, STAT3, HLA-DQA1, IL2RG, IFNGR1, RORC

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 15, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, TIMOTHY SYNDROME, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY 21, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {PSORIASIS SUSCEPTIBILITY 1}, SMITH-KINGSMORE SYNDROME, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 36, HYPERTHYROIDISM, NONAUTOIMMUNE, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FASLG, PRF1, KCNJ11, NGF, PRKCD, IL10, CASP8, PAX4, FAS, IL12B, HLA-DRB1, BCL10, GCK, NFKB1, INSR, IRF3, CACNA1C, LEP, PIK3CD, MTOR, RANBP2, TRAC, ICOS, B2M, HLA-DQA1, SP110, HLA-C, VPS33B, HLA-DQB1, IKBKB, TLR2, EGFR, HNF1A, TSHR, SELP, ZAP70, CREBBP, CD40, STAT3, STAT2, AIRE, TYK2, INS, ABCC8, RBPJ, GATA2, PIK3R1

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {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, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, 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, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, C3 DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, RUBINSTEIN-TAYBI SYNDROME, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, 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], PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, {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, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 8, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {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}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, ICHTHYOSIS WITH CONFETTI, C1Q DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, COMPLEMENT FACTOR I DEFICIENCY, MASP2 DEFICIENCY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, AGAMMAGLOBULINEMIA 3, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, C4A DEFICIENCY, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, 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}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

C3AR1, IFIH1, FAS, CIITA, IRF7, CD19, DSG1, BTK, CFD, B2M, MASP2, PRF1, SERPING1, CD40, HLA-DQA1, CD81, C1QC, KRAS, HTR1A, CASP8, CREBBP, ISG15, IFNAR2, CD79A, CARD9, IKBKG, CORO1A, CFH, CD3E, LEP, PIK3CD, RFXAP, IL10, C2, NFKBIA, C4A, HLA-DRB1, IRF8, C3, FCGR2A, TMEM173, WAS, TYK2, INS, IFNGR1, IGKC, MALT1, RFX5, FASLG, NCF1, C1R, CD40LG, NLRC4, NFKB2, FOXP3, ITGB2, C1QA, ELANE, CARD11, CFI, C1QB, EGFR, IKBKB, IL21, BCL10, STAT2, TRAC, NFKBIL1, STAT3, TLR2, LCK, IFNGR2, NGF, PRKCD, CD46, CASP10, NTRK1, RFXANK, CXCR4, IL12B, IRF3, STAT1, NFKB1, NLRP3, INSR, FADD, CFB, FCGR2B, PLCG2, PTPRC, RPL11, FCGR3A, HLA-DQB1, MBL2, ADAM17, HLA-C, KRT10, SELP, ZAP70, CR2, MTOR, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, TIMOTHY SYNDROME, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, AGAMMAGLOBULINEMIA 4, LEUKOCYTE ADHESION DEFICIENCY, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, RUBINSTEIN-TAYBI SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RHEUMATOID ARTHRITIS, 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}, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

NCF1, IL10, CASP8, EGFR, PRF1, CD40LG, HLA-DRB1, NFKB1, CACNA1C, LEP, FOXP3, PIK3CD, ITGB2, TRAC, B2M, HLA-C, BLNK, HLA-DQB1, TSHR, CREBBP, CD40, HLA-DQA1, INS, PIK3R1

C8 DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, C3 DEFICIENCY, ATAXIA-TELANGIECTASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, C8 DEFICIENCY, TYPE II, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, MASP2 DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, RHEUMATOID ARTHRITIS, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], C4A DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 20, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}

ATM, CD40LG, IRF7, LEP, C1QA, ELANE, C1R, IL10, HLA-DQA1, C2, C1QB, C4A, HLA-DRB1, MASP2, HLA-DQB1, IRF8, FCGR3A, C3, EGFR, SERPING1, C8A, IKBKB, CD40, SELP, FCGR2A, C8B, C1QC, PIK3R1

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, LEUKOCYTE ADHESION DEFICIENCY, {HASHIMOTO THYROIDITIS}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, WHIM SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 36, {LEPROSY, SUSCEPTIBILITY TO}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL

HLA-DQB1, CXCR4, IL10, IRF8, FASLG, IGKC, CD40LG, ACP5, CD40, INS, STAT3, HLA-DQA1, FAS, TLR2, CTLA4, HLA-DRB1, PIK3R1, ITGB2

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {PSORIASIS SUSCEPTIBILITY 1}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, WHIM SYNDROME, {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, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RHEUMATOID ARTHRITIS, {HASHIMOTO THYROIDITIS}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HYPERTHYROIDISM, NONAUTOIMMUNE, IMMUNODEFICIENCY 43, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

HLA-DQB1, FASLG, CD40LG, B2M, HLA-DQA1, TSHR, IL10, IL12B, IRF7, HLA-DRB1, STAT1, CD40, HLA-C, STAT3, CXCR4, PRF1, EGFR, FAS, CTLA4, INS, TRAC

C8 DEFICIENCY, TYPE I, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 15, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, NIEMANN-PICK DISEASE, TYPE A, 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, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, LEUKOCYTE ADHESION DEFICIENCY, ATAXIA-TELANGIECTASIA, 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, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, SMITH-KINGSMORE SYNDROME, SELECTIVE T-CELL DEFECT, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, C8 DEFICIENCY, TYPE II, IMMUNODEFICIENCY 14, COMPLEMENT FACTOR D DEFICIENCY, IMMUNODEFICIENCY 43, C3 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ?IMMUNODEFICIENCY 39, ?IMMUNODEFICIENCY 25, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 44, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 19, [BLOOD GROUP, DUFFY SYSTEM], RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, CD8 DEFICIENCY, FAMILIAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 20, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, NCF1, IFNGR2, HBB, ZAP70, SMPD1, C1QA, PRKCD, IL4R, CYBB, EGFR, CD3D, CFD, PRF1, FAS, CD8A, IL12B, INSR, ATM, CD40LG, IRF7, NGF, CYBA, IKBKG, HAX1, STAT1, NFKB1, FCGR2A, CD3E, IRF3, LEP, C1R, HLA-DRB1, PIK3CD, ITGB2, FADD, GFPT1, C1QB, ELANE, PRKDC, CXCR4, B2M, PTPRC, C8B, CD3G, CD247, SELP, NFKBIA, IL10, ACKR1, FASLG, FCGR3A, CD46, HLA-DQB1, IKBKB, CASP8, NCF2, HLA-DQA1, C3, CD81, NCF4, FCGR2B, HLA-C, KRAS, TLR2, C1QC, C8A, IRF8, CD40, CIITA, STAT3, STAT2, BTK, TYK2, IFNGR1, MTOR, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 15, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 44, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, SMITH-KINGSMORE SYNDROME, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, IRF5, CD40LG, CASP8, PRF1, ISG15, IFNAR2, IKBKG, CXCR4, STAT1, IRF7, IL12B, IRF3, NFKB1, CR2, PIK3CD, MTOR, FADD, ELANE, IL10, CREBBP, NFKBIA, EGFR, IKBKB, FASLG, IRF8, CD40, STAT3, STAT2, BTK, TYK2, TLR2, IGKC, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, {LEPROSY, SUSCEPTIBILITY TO}, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, MUCKLE-WELLS SYNDROME

FASLG, STAT1, NLRC4, CARD9, IKBKG, NFKBIA, NFKB1, NLRP3, CASP8, TNFAIP3, IKBKB, CD40, TLR2, BCL10

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {PSORIASIS SUSCEPTIBILITY 1}, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 33, WHIM SYNDROME, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 38, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, LYMPHOPROLIFERATIVE SYNDROME 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COMPLEMENT FACTOR D DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 36, SMITH-KINGSMORE SYNDROME, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, NRAS, KRAS, PRKCD, IL10, CASP8, EGFR, CREBBP, ISG15, FAS, IKBKG, CXCR4, CD40LG, IRF7, BUB1B, NFKB2, NFKB1, CFD, IRF3, PIK3CD, CD27, ATM, B2M, HTR1A, NFKBIA, STAT1, IRF8, C3, HLA-C, ERCC2, CD40, JAK3, STAT3, STAT2, INS, RBPJ, MTOR, PIK3R1

IMMUNODEFICIENCY 15, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 33, WHIM SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ?IMMUNODEFICIENCY 39, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, MYOTONIC DYSTROPHY 2, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, IMMUNODEFICIENCY 44, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

CXCR4, TMEM173, STAT1, IRF7, TREX1, IL10, IKBKG, IRF3, HLA-DRB1, NFKB1, STAT3, CD40, EGFR, IRF8, STAT2, RBPJ, IKBKB, NFKBIA, CNBP

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {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, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, 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 37, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, LYMPHOPROLIFERATIVE SYNDROME 1, RHEUMATOID ARTHRITIS, {HASHIMOTO THYROIDITIS}, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, CD8 DEFICIENCY, FAMILIAL, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, SMITH-KINGSMORE SYNDROME

LCK, FASLG, NRAS, ITK, KRAS, PRKCD, IL10, CASP8, CREBBP, CD8A, IKBKG, CD40LG, CD3G, IL12B, NFKB2, HLA-DRB1, NFKB1, CD3E, INSR, FOXP3, PIK3CD, BCL10, CD3D, ICOS, CARD11, CD247, NFKBIA, EGFR, IKBKB, CTLA4, NCF4, HLA-C, ZAP70, IRF8, CD40, STAT3, PIK3R1, PTPRC, INS, MTOR, MALT1

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, {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, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, 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, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, C3 DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, ?IMMUNODEFICIENCY 16, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, [BLOOD GROUP, DUFFY SYSTEM], HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, 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], FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 38, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY, COMMON VARIABLE, 13, 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, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, PROPERDIN DEFICIENCY, X-LINKED, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, IMMUNODEFICIENCY 46, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, 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, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

CD3D, CNBP, IFIH1, FAS, IKBKG, IRF7, CD19, BTK, CFD, IL4R, RANBP2, IGHM, TFRC, GATA2, NBN, POLE, PRF1, ERCC2, CREBBP, HLA-DQA1, IL2RG, CD81, KRAS, TNFRSF13C, COPA, CASP8, CD40, IRF5, IFNAR2, CD79A, BUB1B, CIITA, SKIV2L, CD3E, LEP, PIK3CD, NFKBIA, IL10, CD247, CD27, HLA-DRB1, VPS33B, IRF8, C3, RBPJ, TNFRSF4, SH2D1A, STAT3, TYK2, INS, IFNGR1, IGKC, FASLG, IL2RA, BLNK, OAS1, CD40LG, NLRC4, NFKB2, FOXP3, ITGB2, CYBB, TRAC, PRKDC, B2M, ACKR1, EGFR, IKBKB, GFI1, HNF1A, CFP, STAT2, TLR2, LCK, NRAS, ISG15, IFNGR2, NGF, PRKCD, IKZF1, CD46, CASP10, BCL10, ATM, TNFAIP3, IL12B, IRF3, STAT1, NFKB1, NLRP3, CACNA1C, INSR, FADD, CFB, BLM, CXCR4, FCGR2B, PLCG2, PTPRC, CD3G, RPL11, JAK3, PDGFRA, HLA-DQB1, STX11, ADAM17, HLA-C, ZAP70, CR2, MTOR, PIK3R1

AGAMMAGLOBULINEMIA 6, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, AGAMMAGLOBULINEMIA 4, IMMUNODEFICIENCY 33, WHIM SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, AGAMMAGLOBULINEMIA 3, AGAMMAGLOBULINEMIA, X-LINKED 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, IMMUNODEFICIENCY 36, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, SMITH-KINGSMORE SYNDROME

LCK, NRAS, KRAS, PRKCD, BLNK, CREBBP, ISG15, CD79A, CXCR4, CR2, BCL10, MTOR, NFKB1, STAT3, CD19, PIK3CD, BTK, PRKDC, FCGR2B, PLCG2, CARD11, NFKBIA, IKBKB, IKBKG, CD79B, PIK3R1, CD81, MALT1

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, MANNOSIDOSIS, BETA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, MEVALONIC ACIDURIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, LEPRECHAUNISM, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, RUBINSTEIN-TAYBI SYNDROME, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, C2 DEFICIENCY, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {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, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {PSORIASIS SUSCEPTIBILITY 1}, GRISCELLI SYNDROME, TYPE 1, NIEMANN-PICK DISEASE, TYPE A, {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 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, HYPER-IGD SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 8, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MYOTONIC DYSTROPHY 2, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ASPARTYLGLUCOSAMINURIA, C1Q DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, C1R/C1S DEFICIENCY, COMBINED, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, AGAMMAGLOBULINEMIA 3, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

CYBA, CNBP, CIITA, ACP5, KCNJ11, IRF7, SMPD1, BTK, MANBA, MAN2B1, TFRC, MBL2, MPV17, MPO, NCF4, PRF1, C1QC, CREBBP, HLA-DQA1, IL2RG, RBPJ, KRAS, HTR1A, IL10, CASP8, EGFR, CD40, IFNAR2, CD79A, MYO5A, IKBKG, CORO1A, LEP, C1R, COPA, C2, NFKBIA, HLA-DRB1, FCGR3A, NCF2, C3, TMEM173, TSHR, STAT3, TYK2, INS, HAX1, NCF1, GLB1, SLC35A2, IL2RA, MVK, CD40LG, NFKB2, MTOR, ITGB2, C1QA, NGF, TRAC, B2M, HLA-DQB1, IKBKB, STAT2, ELANE, TLR2, LCK, VPS45, CYBB, PRKCD, IL4R, BAAT, NTRK1, ATM, AP3B1, IRF3, STAT1, NFKB1, CR2, INSR, FADD, CXCR4, FCGR2B, RPL11, PDGFRA, STX11, AGA, HLA-C, SELP, ZAP70, FCGR2A, IL21, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 38, ?IMMUNODEFICIENCY 39, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, TENORIO SYNDROME, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

IFIH1, CASP8, CREBBP, ISG15, IFNAR2, IL12B, CASP10, CXCR4, STAT1, IKBKG, IRF7, NFKB1, FADD, IL10, NFKBIA, IRF8, TMEM173, FASLG, RNF125, IKBKB, CD40, TLR2, IRF3

{SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, 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, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 40, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, FCGR2A, DOCK2, PLCG2, TYK2, EGFR, KRAS, PRKCD, FCGR2B, FCGR3A, PTPRC, STAT3, IL4R, ISG15, PIK3CD, WAS, NCF1, IL12B, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, RHEUMATOID ARTHRITIS, {LEPROSY, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 36, SMITH-KINGSMORE SYNDROME, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

CD40LG, PRKCD, CASP8, CREBBP, FAS, CASP10, IKBKG, STAT1, IRF7, NFKB1, TNFAIP3, LEP, PIK3CD, MTOR, FADD, IL10, NFKBIA, EGFR, IKBKB, FASLG, CD40, WAS, INS, TLR2, IRF3, PIK3R1

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {PSORIASIS SUSCEPTIBILITY 1}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 22

LCK, FASLG, HLA-C, B2M, IL10, PIK3R1, HLA-DRB1, CD40, HLA-DQB1, PRF1, HLA-DQA1, FAS, IL12B, TRAC

{PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, ADAMS-OLIVER SYNDROME 3, C3 DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, WHIM SYNDROME, CD8 DEFICIENCY, FAMILIAL, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, AGAMMAGLOBULINEMIA 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, KAPPA LIGHT CHAIN DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, IMMUNODEFICIENCY, COMMON VARIABLE, 5, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 46, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY 36, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2

LCK, IL7R, IL2RA, IL4R, PRF1, CD8A, CXCR4, CR2, HLA-DRB1, IGKC, STAT3, CD3E, LEP, CD3D, B2M, CD3G, IL10, IGHM, HLA-C, C3, CD81, CD19, MS4A1, FASLG, NHP2, ZAP70, CD40, CD46, TFRC, PTPRC, RBPJ, SELP, PIK3R1

?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, AGAMMAGLOBULINEMIA 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CD8 DEFICIENCY, FAMILIAL, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, AGAMMAGLOBULINEMIA 2, AGAMMAGLOBULINEMIA 1, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, AGAMMAGLOBULINEMIA 3, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, OMENN SYNDROME, RHEUMATOID ARTHRITIS, KAPPA LIGHT CHAIN DEFICIENCY, AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, IMMUNODEFICIENCY, COMMON VARIABLE, 2, RUBINSTEIN-TAYBI SYNDROME, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE

LCK, TNFRSF13B, AICDA, IL7R, TNFRSF13C, ICOS, BLNK, CREBBP, RAG1, CD8A, CD79A, RFXANK, STAT1, DCLRE1C, CIITA, IGKC, CD19, CD3E, RFX5, RFXAP, CD3D, BTK, PRKDC, B2M, ORAI1, CD247, NFKBIA, IGHM, CD40LG, IKBKG, IGLL1, UNG, RAG2, ZAP70, CD40, JAK3, ADA, PTPRC, IL2RG, AIRE

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {PSORIASIS SUSCEPTIBILITY 1}, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, C3 DEFICIENCY, IMMUNODEFICIENCY 15, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PROPERDIN DEFICIENCY, X-LINKED, ?IMMUNODEFICIENCY 37, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, IMMUNODEFICIENCY 35, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 44, [BLOOD GROUP, DUFFY SYSTEM], IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, {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, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

FASLG, IFNGR2, IRF8, KRAS, PRKCD, IL10, CASP8, EGFR, OAS1, CREBBP, IFIH1, FAS, IFNAR2, IL12B, ATM, STAT1, IRF7, BCL10, IGKC, NFKB1, CR2, LEP, MTOR, FADD, CFB, CFP, TRAC, CXCR4, B2M, HLA-DQA1, NFKBIA, ACKR1, HLA-DRB1, IKBKG, HLA-DQB1, STX11, C3, TLR2, HLA-C, ZAP70, IKBKB, CD40, STAT3, STAT2, TYK2, INS, IFNGR1, IRF3

C8 DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, 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, 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, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, IMMUNODEFICIENCY 38, 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}, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, RUBINSTEIN-TAYBI SYNDROME, 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, IMMUNODEFICIENCY 24, {HASHIMOTO THYROIDITIS}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AGAMMAGLOBULINEMIA, X-LINKED 1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, 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, ?IMMUNODEFICIENCY 16, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, HYPER-IGD SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, [BLOOD GROUP, DUFFY SYSTEM], HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?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, {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, PROPERDIN DEFICIENCY, X-LINKED, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, 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, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, GRISCELLI SYNDROME, TYPE 1, NIEMANN-PICK DISEASE, TYPE A, ?IMMUNODEFICIENCY 37, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, WISKOTT-ALDRICH SYNDROME, NIJMEGEN BREAKAGE SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, DIGEORGE SYNDROME, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, MEVALONIC ACIDURIA, COMMON VARIABLE IMMUNODEFICIENCY 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, BERGER DISEASE, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY, COMMON VARIABLE, 13, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?CHARGE SYNDROME, CHARGE SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, COMPLEMENT FACTOR H DEFICIENCY, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ICHTHYOSIS WITH CONFETTI, VELOCARDIOFACIAL SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, C1Q DEFICIENCY, 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, BRANCHIOOCULOFACIAL SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, COMPLEMENT FACTOR I DEFICIENCY, MASP2 DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MYOTONIC DYSTROPHY 2, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY 36, C4A DEFICIENCY, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, 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, TNFRSF13B, CNBP, TPI1, RAG1, FAS, CD8A, IKBKG, GFI1, MS4A2, ACP5, IKZF1, NBN, IRF7, CD19, CTPS1, SMPD1, BTK, CFD, IL4R, AICDA, RANBP2, IL21R, TFRC, MASP2, IGLL1, MPO, POLE, NCF4, PRF1, ERCC2, UNG, HELLS, SERPING1, FOXN1, CD40, HLA-DQA1, IL2RG, RBPJ, C1QC, IFIH1, CHD7, GH1, KRAS, NFKB2, HTR1A, IL10, CASP8, EGFR, NKX2-5, CREBBP, ISG15, IFNAR2, CD79A, DCLRE1C, C2, BUB1B, CIITA, IL21, CFP, CD3E, LEP, PIK3CD, COPA, XRCC4, RFXAP, GFPT1, NFKBIA, C1R, ICOS, ORAI1, CARD9, CD247, CD27, C4A, IGHM, VPS33B, IRF8, FCGR3A, NCF2, C3, CD81, FCGR2A, TMEM173, TNFRSF4, TSHR, SH2D1A, ITK, SLC22A4, WAS, TYK2, INS, IFNGR1, MYO5A, MALT1, TBX1, NCF1, KCNJ11, DKC1, IL7R, IL2RA, BLNK, OAS1, SMAD9, IL12RB1, INSR, MVK, HLA-DRB1, NLRC4, GCK, FOXP3, MTOR, ITGB2, C1QA, CYBB, ELANE, PRKDC, CARD11, CFI, TNFRSF13C, C1QB, ACKR1, FASLG, TBX21, IGKC, RPSA, CDSN, DSG1, IL12B, HAX1, HNF1A, RAG2, ITPR3, TFAP2A, PAX4, CFH, STAT2, TRAC, NFKBIL1, SKIV2L, STAT3, TLR2, SELP, AIRE, LCK, NRAS, IRF5, IFNGR2, CORO1A, ZAP70, NGF, CD40LG, PRKCD, B2M, IL17RA, SLC46A1, CD46, PTGER2, JAGN1, CASP10, RORC, NTRK1, RFXANK, ATM, TNFAIP3, BCL10, IRF3, STAT1, NFKB1, NLRP3, CACNA1C, RFX5, IL17RC, FADD, CFB, BLM, CXCR4, FCGR2B, PTPRC, PLCG2, DEAF1, CD3G, SP110, RPL11, JAK3, PDGFRA, HLA-DQB1, STX11, MBL2, ADAM17, CTLA4, ABCC8, HLA-C, KRT10, DNMT3B, ADA, NHP2, C8A, IKBKB, CR2, PIGR, C8B, GATA2, PIK3R1

C8 DEFICIENCY, TYPE I, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, 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, 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}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, 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 19, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, 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, IMMUNODEFICIENCY 36, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, C2 DEFICIENCY, IMMUNODEFICIENCY 40, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?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, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, TENORIO SYNDROME, 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}, ?IMMUNODEFICIENCY 25, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, AGAMMAGLOBULINEMIA 6, ?IMMUNODEFICIENCY 37, 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, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, MYOTONIC DYSTROPHY 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, BERGER DISEASE, IMMUNODEFICIENCY 10, 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, {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, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, ?IMMUNODEFICIENCY 13, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, C4A DEFICIENCY, C1Q DEFICIENCY, AGAMMAGLOBULINEMIA 4, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 38, 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, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, IMMUNODEFICIENCY, COMMON VARIABLE, 4, 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, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, 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, TRANSCOBALAMIN II DEFICIENCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, 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, TNFRSF13B, KCNJ11, NAA10, TPI1, IFIH1, FAS, FERMT3, IKBKG, MS4A2, ACP5, GLB1, NBN, MYO5A, CD19, TREX1, IL7R, BTK, POLE, CFD, DOCK2, AICDA, RANBP2, IGHM, IL21R, TFRC, MASP2, MPO, MSMO1, NCF4, MS4A1, PRF1, ERCC2, HELLS, C1QC, CPT2, CD40, CD79B, HLA-DQA1, RBPJ, SERPING1, XRCC4, KRAS, NFKB2, HTR1A, IL10, CASP8, HLA-C, NKX2-5, CREBBP, ISG15, IFNAR2, CD79A, CD8A, SEMA3E, C2, BUB1B, CIITA, IL21, CFH, CD3E, LEP, PIK3CD, COPA, RFXAP, GFPT1, NFKBIA, C1R, ICOS, ORAI1, CARD9, CD247, CD27, C4A, CD40LG, VPS33B, IRF8, GLIS3, FCGR3A, NCF2, C3, CD81, TMEM173, TSHR, SH2D1A, ITK, STX11, WAS, TYK2, INS, IFNGR1, IRF7, MALT1, FCGR2A, NCF1, STIM1, UNC119, LYST, SLC35A2, IL2RA, NRAS, BLNK, ZAP70, SMAD9, CHAT, INSR, MVK, HLA-DRB1, NLRC4, GCK, FOXP3, EGFR, MTOR, ITGB2, C1QA, CYBB, ELANE, PRKDC, CFP, B2M, CARD11, CFI, TNFRSF13C, C1QB, HLA-DQB1, TBX21, IGKC, RPSA, SCN1A, IL12B, HAX1, HNF1A, DNMT3B, CUBN, ITPR3, THBD, STAT2, G6PC3, NFKBIL1, STAT3, TLR2, SELP, LCK, DDX41, IRF5, IFNGR2, CORO1A, GIF, C8A, NGF, PRKCD, IL4R, IL17RA, SLC46A1, CD46, TRAC, BAAT, PTGER2, CASP10, RORC, NTRK1, SLC39A4, PEPD, ATM, TNFAIP3, BCL10, IRF3, STAT1, NFKB1, NLRP3, CACNA1C, RFX5, RFXANK, FADD, CFB, CD244, CXCR4, FCGR2B, PTPRC, PLCG2, DEAF1, CD3G, SP110, RPL11, JAK3, PDGFRA, CNBP, MBL2, ADAM17, TCN2, CTLA4, ABCC8, FASLG, RNF125, ADA, NHP2, VPS45, IKBKB, CR2, PIGR, C8B, GATA2, PIK3R1

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CANDIDIASIS, FAMILIAL, 9, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {HASHIMOTO THYROIDITIS}, AGAMMAGLOBULINEMIA, X-LINKED 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, KENNY-CAFFEY SYNDROME, TYPE 1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, MEVALONIC ACIDURIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MANNOSIDOSIS, BETA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, ?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, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, C2 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, [BLOOD GROUP, DUFFY SYSTEM], HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, {PSORIASIS SUSCEPTIBILITY 1}, 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, 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, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, IMMUNODEFICIENCY 8, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MYOTONIC DYSTROPHY 2, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {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}, OGDEN SYNDROME, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ASPARTYLGLUCOSAMINURIA, C1Q DEFICIENCY, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, PEELING SKIN SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, AGAMMAGLOBULINEMIA 3, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {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}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

CYBA, CNBP, FAS, IKBKG, GFI1, ACP5, KCNJ11, MYO5A, BCL10, SMPD1, BTK, MANBA, MAN2B1, TFRC, MBL2, MPV17, GATA2, MPO, NCF4, PRF1, ERCC2, C1QC, NAA10, CREBBP, HLA-DQA1, IL2RG, CD81, KRAS, HTR1A, COPA, CASP8, EGFR, NKX2-5, CD40, ISG15, IFNAR2, CD79A, BUB1B, CIITA, IL21, LEP, PIK3CD, GFPT1, C1R, IL10, C2, NFKBIA, HLA-DRB1, IRF8, FCGR3A, NCF2, C3, RBPJ, FCGR2A, TMEM173, TSHR, STAT3, TYK2, INS, IRF7, FASLG, NCF1, GLB1, SLC35A2, IL2RA, BLNK, SMAD9, MVK, CD40LG, NFKB2, FOXP3, ITGB2, C1QA, CYBB, ELANE, PRKDC, B2M, CARD11, C1QB, ACKR1, HLA-DQB1, IKBKB, CDSN, MCM4, HAX1, HNF1A, ITPR3, STAT2, TRAC, TLR2, LCK, NRAS, CORO1A, ZAP70, NGF, PRKCD, IL4R, GJB2, BAAT, CASP10, NTRK1, IL17RC, ATM, JAK3, AP3B1, IL12B, IRF3, STAT1, NFKB1, WAS, TBCE, CACNA1C, INSR, FADD, BLM, CXCR4, FCGR2B, PTPRC, RPL11, PDGFRA, STX11, AGA, CTLA4, HLA-C, SELP, VPS45, CR2, MTOR, PIK3R1

DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CANDIDIASIS, FAMILIAL, 9, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {HASHIMOTO THYROIDITIS}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, AGAMMAGLOBULINEMIA, X-LINKED 1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, 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, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, ?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, ?IMMUNODEFICIENCY 16, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 44, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, HYPER-IGD SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, GRISCELLI SYNDROME, TYPE 1, AGAMMAGLOBULINEMIA 6, 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, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, IMMUNODEFICIENCY 8, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, IMMUNODEFICIENCY 10, IMMUNODEFICIENCY, COMMON VARIABLE, 13, 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}, OGDEN SYNDROME, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HYPERTHYROIDISM, NONAUTOIMMUNE, COMMON VARIABLE IMMUNODEFICIENCY 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, AGAMMAGLOBULINEMIA 4, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 38, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY 24, TRANSCOBALAMIN II DEFICIENCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, SMITH-KINGSMORE SYNDROME

CYBA, CNBP, RAG1, FAS, IKBKG, IRF7, MYO5A, INSR, CTPS1, BTK, G6PC3, CFD, IL4R, RANBP2, IGHM, IL21R, TFRC, NBN, POLE, NCF4, PRF1, ERCC2, NAA10, CREBBP, CD79B, IL2RG, RBPJ, GH1, KRAS, NFKB2, TNFRSF13C, COPA, CASP8, EGFR, NKX2-5, CD40, ISG15, IFNAR2, CD79A, CIITA, GATA2, HLA-DRB1, CD3E, LEP, PIK3CD, GFPT1, NFKBIA, IL10, ORAI1, C2, CD247, CD27, MC2R, IRF8, GLIS3, NCF2, C3, CD81, TNFRSF4, TSHR, ITK, STAT3, TYK2, INS, IFNGR1, GCK, MALT1, FCGR2A, NCF1, STIM1, KCNJ11, IL7R, IL2RA, BLNK, SMAD9, IL12RB1, MVK, CD40LG, RORC, FOXP3, MTOR, ITGB2, CYBB, ELANE, PRKDC, B2M, CARD11, HTR1A, FASLG, TBX21, IGKC, RPSA, GFI1, IL12B, HAX1, RAG2, ITPR3, PAX4, STAT2, TRAC, SKIV2L, TLR2, LCK, NRAS, IRF5, IFNGR2, CORO1A, AICDA, NGF, PRKCD, IKZF1, GJB2, CD46, PTGER2, CASP10, NTRK1, IL17RC, ATM, TNFAIP3, BCL10, IRF3, STAT1, NFKB1, WAS, CACNA1C, CD19, FADD, CXCR4, PTPRC, PLCG2, DEAF1, RPL11, JAK3, PDGFRA, STX11, ADAM17, TCN2, CTLA4, ABCC8, HLA-C, DNMT3B, ADA, SELP, ZAP70, IKBKB, CR2, IL21, PIK3R1

DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CANDIDIASIS, FAMILIAL, 9, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {HASHIMOTO THYROIDITIS}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AGAMMAGLOBULINEMIA, X-LINKED 1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, 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, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, 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, ?IMMUNODEFICIENCY 16, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 44, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, [BLOOD GROUP, DUFFY SYSTEM], HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?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, 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, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, GRISCELLI SYNDROME, TYPE 1, AGAMMAGLOBULINEMIA 6, 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, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, HYPER-IGD SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 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, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 10, IMMUNODEFICIENCY, COMMON VARIABLE, 13, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 5, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {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}, OGDEN SYNDROME, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, AGAMMAGLOBULINEMIA 4, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 38, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, ROUSSY-LEVY SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY 24, TRANSCOBALAMIN II DEFICIENCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {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, CYBA, TNFRSF13B, CASP10, NAA10, RAG1, FAS, CD8A, IKBKG, IRF7, IKZF1, NBN, MYO5A, INSR, CTPS1, MC2R, G6PC3, CFD, IL4R, RANBP2, IGHM, IL21R, TFRC, MPO, POLE, NCF4, MS4A1, PRF1, ERCC2, FOXN1, CNBP, CREBBP, BTK, CD79B, HLA-DQA1, IL2RG, RBPJ, GH1, KRAS, NFKB2, HTR1A, IL10, CASP8, EGFR, NKX2-5, CD40, ISG15, IFNAR2, CD79A, CIITA, IL21, HLA-DRB1, CD3E, LEP, PIK3CD, COPA, GFPT1, NFKBIA, ICOS, ORAI1, C2, CD247, CD27, STAT1, VPS33B, IRF8, GLIS3, NCF2, C3, CD81, TMEM173, TNFRSF4, TSHR, ITK, WAS, DEAF1, INS, IFNGR1, IGKC, MALT1, FCGR2A, NCF1, STIM1, MPZ, KCNJ11, IL7R, IL2RA, BLNK, SMAD9, IL12RB1, MVK, CD40LG, GCK, FOXP3, MTOR, ITGB2, CYBB, ELANE, PRKDC, CARD11, TNFRSF13C, ACKR1, HLA-C, TBX21, GJB2, RPSA, GFI1, IL12B, HAX1, HNF1A, RAG2, ITPR3, PAX4, THBD, STAT2, TPI1, SKIV2L, TLR2, SELP, LCK, NRAS, IRF5, IFNGR2, CORO1A, AICDA, NGF, PRKCD, B2M, IL17RA, CD46, TRAC, PTGER2, PMP22, RORC, NTRK1, TRAF3IP2, IL17RC, ATM, TNFAIP3, BCL10, IRF3, NFKB1, STAT3, CACNA1C, CD19, FADD, CXCR4, PTPRC, PLCG2, TYK2, RPL11, JAK3, PDGFRA, HLA-DQB1, STX11, ADAM17, TCN2, CTLA4, ABCC8, FASLG, DNMT3B, ADA, NHP2, ZAP70, IKBKB, CR2, GATA2, PIK3R1

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, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CANDIDIASIS, FAMILIAL, 9, {HASHIMOTO THYROIDITIS}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, ATAXIA-TELANGIECTASIA, MEVALONIC ACIDURIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, [BLOOD GROUP, DUFFY SYSTEM], C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 16, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, C2 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 44, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, AGAMMAGLOBULINEMIA 6, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, WISKOTT-ALDRICH SYNDROME, ?IMMUNODEFICIENCY 45, WHIM SYNDROME, HYPER-IGD SYNDROME, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 5, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {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}, HYPERTHYROIDISM, NONAUTOIMMUNE, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, ROUSSY-LEVY SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ?CANDIDIASIS, FAMILIAL, 8, LYMPHOPROLIFERATIVE SYNDROME 2, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, IMMUNODEFICIENCY 46, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

C3AR1, FAS, CD8A, CIITA, IRF7, MC2R, BTK, IL4R, IL21R, TFRC, MPO, MS4A1, PRF1, FOXN1, CREBBP, CD79B, HLA-DQA1, IL2RG, CD81, GH1, TNFRSF13C, IL10, CASP8, PTPRC, CD40, IFNAR2, IL12B, GATA2, LEP, COPA, NFKBIA, ICOS, C2, CD247, CD27, HLA-DRB1, IRF8, MPZ, C3, TNFRSF4, TSHR, AICDA, WAS, TYK2, INS, IFNGR1, IGKC, FASLG, TNFRSF13B, IL7R, IL2RA, SMAD9, IL12RB1, MVK, CD40LG, RORC, FOXP3, ITGB2, TRAC, PRKDC, TRAF3IP2, HTR1A, ACKR1, EGFR, TBX21, IL21, HAX1, HNF1A, ITPR3, THBD, STAT2, TPI1, TLR2, SELP, LCK, IFNGR2, NGF, PRKCD, B2M, IL17RA, PTGER2, PMP22, CASP10, IL17RC, ATM, JAK3, STAT1, STAT3, CACNA1C, CD19, FADD, CXCR4, DEAF1, RPL11, PDGFRA, HLA-DQB1, STX11, ADAM17, CTLA4, HLA-C, DNMT3B, NHP2, ZAP70, IKBKB, CFD, MTOR, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, LEUKOCYTE ADHESION DEFICIENCY, {PSORIASIS SUSCEPTIBILITY 1}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}

HLA-DQB1, FASLG, CD40LG, B2M, IL10, HLA-DRB1, CASP8, HLA-C, PRF1, CD40, HLA-DQA1, ITGB2, PIK3R1

IMMUNODEFICIENCY 15, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, LEPRECHAUNISM, IMMUNODEFICIENCY 33, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {LEPROSY, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, SMITH-KINGSMORE SYNDROME

LCK, FASLG, NRAS, PLCG2, KRAS, IKBKG, NFKBIA, NFKB1, PRKCD, IKBKB, CD40, EGFR, STAT3, BTK, PIK3CD, MTOR, TLR2, NTRK1, NGF, PIK3R1, INSR

{SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ICHTHYOSIS WITH CONFETTI, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, C3 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, IMMUNODEFICIENCY 20, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMPLEMENT FACTOR D DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, COMPLEMENT FACTOR I DEFICIENCY, MASP2 DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, C1R/C1S DEFICIENCY, COMBINED, RHEUMATOID ARTHRITIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], COMPLEMENT FACTOR H DEFICIENCY, C4A DEFICIENCY, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, ?IMMUNODEFICIENCY 22, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

LCK, FCGR2A, C3AR1, NGF, IL10, CD46, C1R, HLA-DRB1, CFB, CFH, LEP, FCGR3A, DSG1, FCGR2B, C2, CFI, C1QB, C4A, MBL2, ITGB2, MASP2, C3, C1QA, HLA-DQB1, KRT10, SERPING1, SELP, CFD, HLA-DQA1, INS, C1QC

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY 12, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 8, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, C3 DEFICIENCY, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 7, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 44, 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 1, AUTOSOMAL DOMINANT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, LEUKOCYTE ADHESION DEFICIENCY, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, {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, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 20, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FASLG, IFNGR2, CORO1A, NGF, CD40LG, PRKCD, FCGR2B, CASP8, CREBBP, FAS, IFNAR2, IL12B, CASP10, RFXANK, CXCR4, CR2, STAT1, IRF7, BCL10, IL21, NFKB1, FCGR2A, IRF3, RFX5, MTOR, ITGB2, FADD, BTK, KRAS, ELANE, B2M, PTPRC, CARD9, IL10, HLA-DRB1, FCGR3A, IKBKG, HLA-DQB1, IRF8, HLA-DQA1, C3, RFXAP, EGFR, SELP, ZAP70, TLR2, CD40, CIITA, STAT3, STAT2, MALT1, TYK2, IFNGR1, IGKC, PIK3R1

IMMUNODEFICIENCY 14, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPER-IGE RECURRENT INFECTION SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SMITH-KINGSMORE SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

NRAS, KRAS, NGF, LEP, PDGFRA, EGFR, STAT3, PIK3CD, MTOR, INS, NTRK1, GCK, PIK3R1

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 44, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY 36, SMITH-KINGSMORE SYNDROME