IMMUNOLOGY

THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY 19, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ?IMMUNODEFICIENCY 25, LYMPHOPROLIFERATIVE SYNDROME 1, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, WISKOTT-ALDRICH SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 22

LCK, B2M, CD3G, CD247, ZAP70, CD3D, ITK, HLA-DRB1, CD3E, HLA-DQB1, WAS, HLA-DQA1, TRAC

IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, ?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {CELIAC DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22

LCK, STAT1, CD3G, CD247, CD3D, HLA-DRB1, B2M, CD3E, HLA-DQB1, HLA-DQA1, IFNGR1, TRAC

IMMUNODEFICIENCY 19, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ?IMMUNODEFICIENCY 25, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 22

LCK, HLA-DQB1, B2M, CD3G, CD247, CD3D, ZAP70, HLA-DRB1, CD3E, HLA-DQA1, TRAC

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 15, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, SMITH-KINGSMORE SYNDROME

LCK, NCF1, NGF, PRKCD, NRAS, CASP8, ISG15, NTRK1, STAT1, IKBKG, NFKB2, HLA-DRB1, NFKB1, CD19, TNFAIP3, LEP, PIK3CD, ITGB2, BCL10, IL7R, BTK, B2M, PSMB8, IL10, IL2RA, JAK3, PDGFRA, INS, IKBKB, BLNK, EGFR, KRAS, LAMTOR2, CD40, STAT3, TYK2, IL2RG, MTOR, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, ?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 WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AGAMMAGLOBULINEMIA, X-LINKED 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}, ATAXIA-TELANGIECTASIA

ATM, IL10, BCL10, NFKBIA, NFKB1, STAT1, CD40, EGFR, IKBKB, CASP8, INS, TLR2, BTK, IKBKG, NFKB2, ELANE

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, 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, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {LEPROSY, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

NFKB2, CASP8, BCL10, STAT1, IKBKG, IRF7, NFKB1, ITGB2, FADD, BTK, IL10, PLCG2, NFKBIA, CD40LG, IKBKB, EGFR, CD40, STAT3, ELANE, INS, TLR2, IRF3

AGAMMAGLOBULINEMIA 1, AGAMMAGLOBULINEMIA 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, AGAMMAGLOBULINEMIA 4, LEPRECHAUNISM, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY 33, WHIM SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, AGAMMAGLOBULINEMIA 3, IMMUNODEFICIENCY 10, KAPPA LIGHT CHAIN DEFICIENCY, AGAMMAGLOBULINEMIA, X-LINKED 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, SMITH-KINGSMORE SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, NRAS, STIM1, NGF, PRKCD, BLNK, CD3D, CD40, FAS, ORAI1, CD79A, CXCR4, CD40LG, LEP, BCL10, IGKC, NFKB1, CD79B, CD3E, INSR, PIK3CD, MTOR, KRAS, BTK, PRKDC, PLCG2, CARD11, WAS, NFKBIA, IGHM, PDGFRA, IKBKB, CD19, EGFR, PSMB8, ITPR3, IKBKG, STAT3, MALT1, INS, NFKB2, PIK3R1

IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {HASHIMOTO THYROIDITIS}, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ?IMMUNODEFICIENCY 16, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, GRISCELLI SYNDROME, TYPE 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AGAMMAGLOBULINEMIA 6, 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, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, LYMPHOPROLIFERATIVE SYNDROME 2, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, CD8 DEFICIENCY, FAMILIAL, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

TNFRSF13B, FAS, CD8A, IKBKG, IRF7, CD19, BTK, B2M, RANBP2, NCF4, PRF1, CREBBP, CD79B, HLA-DQA1, IL2RG, RBPJ, KRAS, TNFRSF13C, CASP8, CD40, IRF5, IFNAR2, MYO5A, CIITA, MTOR, CD3E, LEP, PIK3CD, NFKBIA, IL10, PSMB8, CD247, CD27, HLA-DRB1, IRF8, TNFRSF4, ITK, LAMTOR2, WAS, TYK2, INS, IFNGR1, RORC, FASLG, NCF1, IL7R, IL2RA, BLNK, OAS1, CD40LG, NFKB2, ITGB2, TRAC, EGFR, IKBKB, IGKC, GH1, STAT2, TLR2, LCK, NRAS, ISG15, IFNGR2, AICDA, NGF, PRKCD, NTRK1, ATM, TNFAIP3, BCL10, IRF3, STAT1, NFKB1, STAT3, INSR, FADD, CXCR4, JAK3, PDGFRA, HLA-DQB1, STX11, ADAM17, CTLA4, HLA-C, ZAP70, PIK3R1

IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AGAMMAGLOBULINEMIA, X-LINKED 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {LEPROSY, SUSCEPTIBILITY TO}, ATAXIA-TELANGIECTASIA

ATM, STAT1, NFKBIA, NFKB1, IKBKB, TLR2, IKBKG, NFKB2, BTK

?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, WHIM SYNDROME, RHEUMATOID ARTHRITIS, ?IMMUNODEFICIENCY 39, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 44, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35

CXCR4, IL10, IRF7, STAT1, EGFR, STAT3, STAT2, TYK2, IFNAR2

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, 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, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 38, ?IMMUNODEFICIENCY 39, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TENORIO SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

IFIH1, CASP8, CREBBP, ISG15, FAS, CASP10, IKBKG, CXCR4, TNFAIP3, IRF7, NFKB1, STAT3, IRF3, FADD, IL10, NFKBIA, STAT1, IKBKB, RNF125, CD40, NLRP3, STAT2, NFKB2

IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 15, 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, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {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, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 39, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, WISKOTT-ALDRICH SYNDROME, {HASHIMOTO THYROIDITIS}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, 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}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, {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, ?IMMUNODEFICIENCY 22, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, NCF1, NGF, PRKCD, NRAS, CD3D, FAS, PSMB8, NTRK1, STAT1, IRF7, LEP, NFKB2, HLA-DRB1, NFKB1, WAS, CD3E, TNFAIP3, INSR, FOXP3, PIK3CD, ITGB2, KRAS, IL10, B2M, IL2RA, CD40LG, PDGFRA, INS, IKBKB, CTLA4, CD19, EGFR, ITPR3, LAMTOR2, CD40, JAK3, STAT3, IL2RG, MTOR, PIK3R1

IMMUNODEFICIENCY 43, {PSORIASIS SUSCEPTIBILITY 1}

HLA-C, B2M

AGAMMAGLOBULINEMIA 6, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, IMMUNODEFICIENCY 15, 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, HYPER-IGE RECURRENT INFECTION SYNDROME, LEPRECHAUNISM, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 14, AGAMMAGLOBULINEMIA 1, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {HASHIMOTO THYROIDITIS}, RHEUMATOID ARTHRITIS, COMMON VARIABLE IMMUNODEFICIENCY 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 36, SMITH-KINGSMORE SYNDROME

LCK, NCF1, NGF, PRKCD, NRAS, CD3D, FAS, PSMB8, NTRK1, JAK3, IRF7, LEP, NFKB2, STAT3, CD3E, TNFAIP3, INSR, PIK3CD, ITGB2, KRAS, IL10, B2M, IL2RA, NFKBIA, IGHM, HLA-DRB1, PDGFRA, INS, IKBKB, ADAM17, CTLA4, CD19, EGFR, DNMT3B, GH1, LAMTOR2, CD40, CD79B, IL2RG, MTOR, PIK3R1

INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, IMMUNODEFICIENCY 33, WHIM SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 40, ?IMMUNODEFICIENCY 39, IMMUNODEFICIENCY 44, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, 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}, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 36, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

HBB, ITPR3, CREBBP, IRF5, DOCK8, CIITA, CXCR4, STAT1, BUB1B, NTRK1, IRF7, NFKB1, IRF3, INSR, DOCK2, GATA2, EGFR, VPS45, IKBKG, STAT3, STAT2, HAX1, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 37, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE

EGFR, CARD9, IKBKG, TNFAIP3, CASP8, IKBKB, BCL10, MALT1

IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {HASHIMOTO THYROIDITIS}, AGAMMAGLOBULINEMIA, X-LINKED 1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, IMMUNODEFICIENCY 43, ?IMMUNODEFICIENCY 22, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, 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 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, CD8 DEFICIENCY, FAMILIAL, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, 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, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, BERGER DISEASE, IMMUNODEFICIENCY 10, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 5, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, AGAMMAGLOBULINEMIA 6, 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, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MYOTONIC DYSTROPHY 2, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 46, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

CYBA, CD3D, CNBP, FAS, CD8A, IKBKG, IRF7, CD19, BTK, IL4R, CD244, IGHM, NCF4, MS4A1, TFRC, CREBBP, CD79B, HLA-DQA1, CD81, KRAS, IL10, CASP8, CD40, IRF5, ORAI1, CD79A, MYO5A, BUB1B, CIITA, MTOR, CD3E, LEP, PIK3CD, COPA, PSMB8, CD247, NFKBIA, HLA-DRB1, IRF8, FCGR3A, NCF2, C3, TSHR, SH2D1A, ITK, STAT3, DEAF1, INS, IFNGR1, RORC, MALT1, FASLG, NCF1, STIM1, SMPD1, BLNK, C1R, CD40LG, ICOS, NFKB2, FOXP3, ITGB2, C1QA, CYBB, TRAC, PRKDC, CARD11, HLA-C, IKBKB, IGKC, GFI1, RAG2, ITPR3, ELANE, LCK, NRAS, ISG15, NGF, PRKCD, B2M, BCL10, ATM, IL12B, IRF3, STAT1, NFKB1, WAS, SPATA5, INSR, FADD, RANBP2, RBCK1, CXCR4, FCGR2B, PLCG2, PTPRC, CD3G, RPL11, PDGFRA, HLA-DQB1, CTLA4, ABCC8, EGFR, DNMT3B, SELP, ZAP70, PIGR, PIK3R1

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?CHARGE SYNDROME, CHARGE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?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, ATELEIOTIC DWARFISM, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SICKLE CELL ANEMIA, {HASHIMOTO THYROIDITIS}, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, {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, ADAMS-OLIVER SYNDROME 3, LEPRECHAUNISM, SPLENIC HYPOPLASIA, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TRANSCOBALAMIN II DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, IMMUNODEFICIENCY 40, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 19, 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], PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE I, IMMUNODEFICIENCY 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, INTRINSIC FACTOR DEFICIENCY, 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}, 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, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYALINE FIBROMATOSIS SYNDROME, 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, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, C4A DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SMITH-KINGSMORE SYNDROME

CYBA, HBB, CD3D, NAA10, FAS, CIITA, IRF7, CD19, BTK, DOCK2, RANBP2, IGHM, NCF4, TFRC, ERCC2, CREBBP, RBPJ, AMN, CHD7, GH1, KRAS, HTR1A, ICOS, CD40, ISG15, BUB1B, IKBKG, MTOR, CD3E, LEP, PIK3CD, GFPT1, IL10, PSMB8, C2, CD247, NFKBIA, C4A, MC2R, VPS33B, NCF2, C3, CD81, TSHR, ITK, WAS, INS, CUBN, PMM2, FASLG, NCF1, GLB1, SMAD9, CD40LG, NFKB2, FOXP3, ITGB2, CYBB, TRAC, PRKDC, B2M, HLA-C, IKBKB, IGKC, RPSA, HAX1, HNF1A, XRCC4, TPI1, TLR2, LCK, NRAS, ELANE, IRF5, GIF, NGF, PRKCD, IL4R, PTGER2, BCL10, ATM, STAT1, NFKB1, STAT3, CACNA1C, INSR, CXCR4, ANTXR2, RPL11, PDGFRA, ADAM17, TCN2, CTLA4, EGFR, SELP, GTF2H5, FCGR2A, ALG13, 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, IMMUNODEFICIENCY 36, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

IL2RG, IL7R, STAT3, PIK3R1, JAK3

IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 15, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY

NFKBIA, IKBKG, IKBKB, NFKB1, NFKB2

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, IMMUNODEFICIENCY 38, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, SCID DUE TO ABSENT CLASS II HLA ANTIGENS

HLA-C, B2M, ISG15, CYBA, IL10, CYBB, STAT1, NCF1, CD3E, NCF2, INS, PSMB8, CIITA, HLA-DRB1, NCF4

IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SCID DUE TO ABSENT CLASS II HLA ANTIGENS

IL10, PSMB8, STAT1, B2M, CD3E, HLA-C, ISG15, CIITA

{SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {PSORIASIS SUSCEPTIBILITY 1}, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 43

INS, HLA-C, HLA-DRB1, B2M

{HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, COMPLEMENT FACTOR D DEFICIENCY, PROPERDIN DEFICIENCY, X-LINKED, C3 DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}

C3, CFB, CFD, CFP

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, 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, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {LEPROSY, SUSCEPTIBILITY TO}, 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, COMMON VARIABLE, 12, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

NFKB2, CASP8, BCL10, ATM, STAT1, IKBKG, IRF7, NFKB1, FOXP3, ITGB2, FADD, ELANE, IL10, PLCG2, NFKBIA, CD40LG, IKBKB, EGFR, CD40, STAT3, BTK, INS, TLR2, IRF3

AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, IMMUNODEFICIENCY 33, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 15, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, MYOTONIC DYSTROPHY 2, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?IMMUNODEFICIENCY 39, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CHILBLAIN LUPUS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

ATM, PRKDC, DDX41, IRF7, TMEM173, TREX1, NFKBIA, NFKB2, NFKB1, CNBP, NGF, IKBKB, CREBBP, RBPJ, IKBKG, IRF3

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, {PSORIASIS SUSCEPTIBILITY 1}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 43, ?IMMUNODEFICIENCY 39, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, 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}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, STAT1, B2M, ISG15, IFNGR2, OAS1, NTRK1, IRF3, HLA-DRB1, PRKCD, STX11, IKBKG, HLA-C, IRF8, BCL10, IRF5, HLA-DQA1, IFNGR1, CIITA, IRF7, HLA-DQB1

C8 DEFICIENCY, TYPE I, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, C3 DEFICIENCY, CD8 DEFICIENCY, FAMILIAL, IMMUNODEFICIENCY 43, ?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, PROPERDIN DEFICIENCY, X-LINKED, 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, C1R/C1S DEFICIENCY, COMBINED, AGAMMAGLOBULINEMIA 3, {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, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME

LCK, NGF, CFHR3, C1QC, FCN3, CD79A, CD8A, C1R, IGKC, CFH, LEP, C1QA, CFB, CFD, B2M, C2, CFI, C1QB, C4A, MBL2, MASP2, C3, EGFR, SERPING1, C8A, CFP, CD40, CD46, C8B, INS, MTOR

IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, LEPRECHAUNISM, IMMUNODEFICIENCY 33, WHIM SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, AGAMMAGLOBULINEMIA 1, 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, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, 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, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, SMITH-KINGSMORE SYNDROME

LCK, NRAS, NGF, PRKCD, CD3D, FAS, BCL10, CXCR4, IGHM, IKBKG, NFKB2, NFKB1, LEP, CD3E, INSR, PIK3CD, KRAS, PRKDC, PSMB8, CARD11, NFKBIA, PDGFRA, IKBKB, CD19, EGFR, CD40, STAT3, PIK3R1, INS, MTOR, MALT1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1

FASLG, TNFAIP3, CASP8, ADAM17, FAS, FADD, CASP10

IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY 11

PSMB8, CARD11, BCL10, NFKBIA, NFKB1, CREBBP, IKBKB, IKBKG, NFKB2, MALT1

PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, IMMUNODEFICIENCY 14, {PSORIASIS SUSCEPTIBILITY 1}, 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}, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY 15, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, WHIM SYNDROME, SELECTIVE T-CELL DEFECT, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMPLEMENT FACTOR D DEFICIENCY, IMMUNODEFICIENCY 40, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 43, C3 DEFICIENCY, 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, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, 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, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, LEUKOCYTE ADHESION DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, 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, {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, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SMITH-KINGSMORE SYNDROME, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 10, IMMUNODEFICIENCY 9, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FCGR2A, NRAS, STIM1, IRF5, HBB, ZAP70, NGF, IL2RA, IL10, CIITA, EGFR, SELP, PRF1, ISG15, FAS, ORAI1, DOCK8, IKBKG, IFNAR2, CXCR4, CD40LG, IRF7, ITK, LEP, BUB1B, IL12B, IGKC, HLA-DRB1, NFKB1, CFD, IRF3, ITPR3, INSR, NTRK1, FOXP3, PIK3CD, MTOR, ITGB2, THBD, KRAS, MYO5A, DOCK2, PLCG2, WAS, CD244, PRKCD, STAT1, INS, IKBKB, GATA2, C3, MPO, HLA-C, HAX1, HTR1A, TSHR, SH2D1A, VPS45, CREBBP, CD40, JAK3, B2M, STAT3, STAT2, PTPRC, IL2RG, ABCC8, RANBP2, SERPING1, PIK3R1

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, ?IMMUNODEFICIENCY 25, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, 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 33, SELECTIVE T-CELL DEFECT, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, LYMPHOPROLIFERATIVE SYNDROME 1, RHEUMATOID ARTHRITIS, WISKOTT-ALDRICH SYNDROME, {CELIAC DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, ITK, CD3D, ISG15, BCL10, HLA-DRB1, CD3G, IKBKG, NFKB1, CD3E, INSR, TRAC, B2M, HLA-DQA1, CARD11, CD247, NFKBIA, HLA-DQB1, IRF8, EGFR, ZAP70, IKBKB, WAS, PIK3R1, PTPRC, MALT1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, {PSORIASIS SUSCEPTIBILITY 1}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, NIEMANN-PICK DISEASE, TYPE A, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, 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, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, KAPPA LIGHT CHAIN DEFICIENCY, AGAMMAGLOBULINEMIA 3, {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, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 20, IMMUNODEFICIENCY, COMMON VARIABLE, 3, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, IMMUNODEFICIENCY 36, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

LCK, SMPD1, B2M, CASP8, EGFR, FAS, CD8A, CD79A, CXCR4, CD40LG, IGKC, CD19, CD3E, LEP, ITGB2, C1QA, CD3D, TRAC, FCGR2B, CD3G, CD247, HLA-C, FCGR3A, C3, IFNGR1, FASLG, TSHR, SH2D1A, CD40, PTPRC, INS, CD81, SELP, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, {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, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11

CD40LG, CREBBP, PLCG2, CARD9, CARD11, NFKB1, NFKBIA, PRKCD, IL10, NRAS, ITPR3, IKBKB, CASP8, PIK3R1, ITGB2, PSMB8, BCL10, KRAS, IKBKG, NFKB2, MALT1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 15, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, AICARDI-GOUTIERES SYNDROME 7

CASP8, IKBKB, IFIH1, CASP10, IKBKG, FADD

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

NGF, NTRK1, STAT3

IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, RUBINSTEIN-TAYBI SYNDROME, WHIM SYNDROME, ?IMMUNODEFICIENCY 39, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, IMMUNODEFICIENCY 44, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

CXCR4, STAT1, IRF3, CD40, STAT2, CREBBP, IFIH1, IRF7

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, ?IMMUNODEFICIENCY 25, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 33, ?IMMUNODEFICIENCY 22, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11

LCK, MALT1, HLA-DRB1, B2M, HLA-DQA1, CARD11, CD247, BCL10, NFKBIA, NFKB1, IKBKB, CD3E, HLA-DQB1, IRF8, PIK3R1, ISG15, CD3G, IKBKG, CD3D, TRAC

IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 15, 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, HYPER-IGE RECURRENT INFECTION SYNDROME, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {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, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {HASHIMOTO THYROIDITIS}, 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}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

LCK, NCF1, NGF, PRKCD, NRAS, CD3D, CREBBP, FAS, PSMB8, NTRK1, CD40LG, IRF7, NFKB2, HLA-DRB1, NFKB1, LEP, CD3E, TNFAIP3, INSR, FOXP3, PIK3CD, ITGB2, KRAS, IL10, B2M, IL2RA, JAK3, PDGFRA, INS, IKBKB, CTLA4, CD19, EGFR, ITPR3, LAMTOR2, CD40, STAT3, IL2RG, MTOR, 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, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ?IMMUNODEFICIENCY 25, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 22

LCK, HLA-DRB1, HLA-DQA1, CD3G, CD247, CD3D, B2M, CD3E, HLA-DQB1, PTPRC, TRAC

AGAMMAGLOBULINEMIA 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {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, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, C1Q DEFICIENCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, WISKOTT-ALDRICH SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, AGAMMAGLOBULINEMIA 3, {HASHIMOTO THYROIDITIS}, WHIM SYNDROME, RHEUMATOID ARTHRITIS, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, COMMON VARIABLE IMMUNODEFICIENCY 1, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, NCF1, ITK, NGF, PRKCD, NRAS, CD3D, CD40, ISG15, FAS, PSMB8, CD79A, MS4A2, CXCR4, STAT1, IRF7, LEP, NTRK1, IGKC, HLA-DRB1, NFKB1, WAS, CD3E, TNFAIP3, INSR, PIK3CD, MTOR, ITGB2, BCL10, KRAS, BTK, IL10, CREBBP, PLCG2, CARD11, IL2RA, NFKBIA, IGHM, CD40LG, PDGFRA, INS, IKBKB, CTLA4, C1QA, NCF4, CD19, EGFR, ITPR3, LAMTOR2, IKBKG, JAK3, B2M, STAT3, MALT1, IL2RG, NFKB2, PIK3R1

C8 DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, 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, 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, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {HASHIMOTO THYROIDITIS}, COMPLEMENT FACTOR I DEFICIENCY, {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 DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 16, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, IMMUNODEFICIENCY 40, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, HERMANSKY-PUDLAK SYNDROME 2, 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, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, GRISCELLI SYNDROME, TYPE 1, NIEMANN-PICK DISEASE, TYPE A, ?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}, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, {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, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 1, MYOTONIC DYSTROPHY 2, BERGER DISEASE, IMMUNODEFICIENCY 10, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 5, {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}, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HYPERTHYROIDISM, NONAUTOIMMUNE, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, 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, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, PEELING SKIN SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 38, PROPERDIN DEFICIENCY, X-LINKED, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, MASP2 DEFICIENCY, 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, 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, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, IMMUNODEFICIENCY 46, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, 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

CYBA, TREX1, CD3D, TNFRSF13B, CNBP, RAG1, FAS, CD8A, IKBKG, GFI1, MS4A2, IRF7, MYO5A, INSR, SMPD1, BTK, CFD, DOCK2, AICDA, CFHR3, RANBP2, IGHM, TFRC, MASP2, NBN, NCF4, MS4A1, PRF1, ERCC2, C1QC, CREBBP, CD79B, RBCK1, HLA-DQA1, IL2RG, RBPJ, SERPING1, IFIH1, GH1, KRAS, NFKB2, TNFRSF13C, IL10, CASP8, HLA-C, CD40, ISG15, PSMB8, FCN3, CD79A, C2, BUB1B, CIITA, GATA2, CFH, CD3E, LEP, PIK3CD, COPA, NFKBIA, ICOS, ORAI1, CARD9, CD247, CD27, C4A, HLA-DRB1, IRF8, PDGFRA, NCF2, C3, CD81, TMEM173, TNFRSF4, TSHR, SH2D1A, ITK, LAMTOR2, WAS, DEAF1, INS, IFNGR1, GCK, MALT1, FCGR2A, NCF1, STIM1, UNC119, IL7R, IL2RA, NRAS, BLNK, OAS1, C1R, CD40LG, NLRC4, RORC, FOXP3, EGFR, ITGB2, C1QA, CYBB, ELANE, PRKDC, B2M, CARD11, CFI, C1QB, HLA-DQB1, IKBKB, IGKC, CDSN, IL12B, DNMT3B, RAG2, ITPR3, CFP, STAT2, TRAC, STAT3, TLR2, LCK, DDX41, IRF5, IFNGR2, ZAP70, NGF, PRKCD, IL4R, CD46, CASP10, NTRK1, IFNAR2, ATM, TNFAIP3, AP3B1, BCL10, IRF3, STAT1, NFKB1, NLRP3, SPATA5, CD19, FADD, CFB, CD244, BLM, CXCR4, FCGR2B, PTPRC, PLCG2, TYK2, CD3G, RPL11, JAK3, FCGR3A, STX11, MBL2, ADAM17, CTLA4, ABCC8, FASLG, RNF125, SELP, C8A, CR2, PIGR, C8B, MTOR, PIK3R1

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, GRISCELLI SYNDROME, TYPE 1, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}

B2M, BUB1B, MYO5A, HLA-DRB1, ZAP70, STAT1, HLA-DQB1, HLA-DQA1, CIITA, TRAC

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, 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, {HASHIMOTO THYROIDITIS}, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, 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 44, MUCKLE-WELLS SYNDROME, ADAMS-OLIVER SYNDROME 3, 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, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, TENORIO SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, GRISCELLI SYNDROME, TYPE 1, ?IMMUNODEFICIENCY 37, {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 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, 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, WISKOTT-ALDRICH SYNDROME, 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}, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, ?IMMUNODEFICIENCY 13, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, C1Q DEFICIENCY, AGAMMAGLOBULINEMIA 4, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, PEELING SKIN SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, PROPERDIN DEFICIENCY, X-LINKED, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, COMPLEMENT FACTOR I DEFICIENCY, MASP2 DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, AGAMMAGLOBULINEMIA 3, MYOTONIC DYSTROPHY 2, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY 36, C4A DEFICIENCY, 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}, SMITH-KINGSMORE SYNDROME

TREX1, CD3D, CNBP, IFIH1, FAS, CD8A, IKBKG, MS4A2, IRF7, GCK, INSR, BTK, CFD, B2M, CFHR3, IGHM, MASP2, NCF4, PRF1, ERCC2, SERPING1, CREBBP, IL2RG, CD81, C1QC, KRAS, COPA, CASP8, EGFR, CD40, ISG15, FCN3, CD79A, MYO5A, C2, CIITA, MTOR, HLA-DRB1, CFP, CD3E, LEP, PIK3CD, IL10, PSMB8, CARD9, CD247, NFKBIA, C4A, STAT1, IRF8, PDGFRA, C3, RBPJ, TMEM173, TSHR, ITK, WAS, TYK2, INS, IFNGR1, IGKC, MALT1, FCGR2A, NCF1, CDSN, IL2RA, NRAS, BLNK, C1R, CD40LG, NLRC4, NFKB2, FOXP3, ITGB2, C1QA, ELANE, PRKDC, CARD11, CFI, C1QB, FASLG, IKBKB, IL12B, ITPR3, CFH, STAT2, STAT3, TLR2, LCK, DDX41, ZAP70, NGF, PRKCD, CD46, CASP10, NTRK1, ATM, TNFAIP3, BCL10, IRF3, NFKB1, CR2, CD19, FADD, CFB, CXCR4, PTPRC, PLCG2, DEAF1, CD3G, JAK3, FCGR3A, LAMTOR2, MBL2, UNC119, CTLA4, HLA-C, RNF125, SELP, C8A, NLRP3, C8B, PIK3R1

IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 15, 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, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {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 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {HASHIMOTO THYROIDITIS}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, {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, ?IMMUNODEFICIENCY 22, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, FASLG, NCF1, NGF, PRKCD, NRAS, CD3D, FAS, NTRK1, STAT1, LEP, CIITA, NFKB2, HLA-DRB1, NFKB1, WAS, CD3E, TNFAIP3, INSR, PIK3CD, MTOR, ITGB2, KRAS, IL10, PSMB8, IL2RA, JAK3, PDGFRA, INS, IKBKB, CTLA4, CD19, EGFR, LAMTOR2, CD40, B2M, STAT3, IL2RG, IRF7, PIK3R1

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BARTH SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, 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, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ATELEIOTIC DWARFISM, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AGAMMAGLOBULINEMIA, X-LINKED 1, KENNY-CAFFEY SYNDROME, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ATAXIA-TELANGIECTASIA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SPLENIC HYPOPLASIA, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, IMMUNODEFICIENCY 44, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, IMMUNODEFICIENCY 33, RHEUMATOID ARTHRITIS, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, HERMANSKY-PUDLAK SYNDROME 2, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, {PSORIASIS SUSCEPTIBILITY 1}, GRISCELLI SYNDROME, TYPE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, GM1-GANGLIOSIDOSIS, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 5, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, COMMON VARIABLE IMMUNODEFICIENCY 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, IMMUNODEFICIENCY, COMMON VARIABLE, 13, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 23, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 24, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, BLOOM SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, PROPERDIN DEFICIENCY, X-LINKED, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, DIAMOND-BLACKFAN ANEMIA 7, GRISCELLI SYNDROME, TYPE 2, MASP2 DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, RIDDLE SYNDROME, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, C4A DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SMITH-KINGSMORE SYNDROME

LCK, FASLG, RPSA, GLB1, ZAP70, NGF, NFKB2, PRKCD, COPA, CIITA, STX11, EGFR, RNF168, PLA2G7, FAS, IL12B, INSR, ATM, CD40LG, MYO5A, SLC35A1, AP3B1, IKBKG, PMM2, STAT1, NFKB1, COLQ, TBCE, IRF3, LEP, RANBP2, RAB27A, MTOR, ITGB2, POLE, MC2R, GFPT1, KRAS, BLM, PRKDC, CFD, IKZF1, CREBBP, B2M, CFB, CARD11, IL10, RPL11, GH1, C4A, CLPB, MASP2, IKBKB, TAZ, PGM3, ADAM17, C3, SMAD9, CTPS1, NCF4, HLA-C, HNF1A, ERCC2, TSHR, SERPING1, XRCC4, CFP, CD40, BTK, SELP, STAT3, STAT2, PIGR, PTPRC, SKIV2L, INS, DNMT3B, RBPJ, ALG13, HAX1, PIK3R1

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, {PSORIASIS SUSCEPTIBILITY 1}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, GRISCELLI SYNDROME, TYPE 1, 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 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 44, 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, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, 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 35, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

IRF5, IFNGR2, PRKCD, IL10, OAS1, CREBBP, ISG15, FAS, IFNAR2, NTRK1, CXCR4, STAT1, MYO5A, CIITA, IRF3, HLA-DRB1, CD3E, BCL10, B2M, PSMB8, HLA-DQA1, RANBP2, EGFR, IKBKG, HLA-DQB1, IRF8, HLA-C, STX11, CD40, STAT3, STAT2, TYK2, INS, IFNGR1, IRF7

{PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, ?IMMUNODEFICIENCY 39, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, 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, LYMPHOPROLIFERATIVE SYNDROME 1, RHEUMATOID ARTHRITIS, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, DIAMOND-BLACKFAN ANEMIA 7, 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, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

NCF1, CYBA, CYBB, PRKCD, IL10, ISG15, FAS, BCL10, STAT1, CIITA, IRF7, HLA-DRB1, CD3E, INSR, ELANE, COPA, PSMB8, RPL11, HLA-C, IRF8, NCF2, NCF4, EGFR, ITK, CD40, B2M, RBCK1, INS, IRF3

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 33, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, {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 LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ?IMMUNODEFICIENCY 37, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, COMMON VARIABLE IMMUNODEFICIENCY 1

PLCG2, CARD9, CARD11, NFKB1, NFKBIA, PRKCD, CREBBP, CASP8, ITPR3, IKBKB, PIK3R1, PSMB8, BCL10, IKBKG, NFKB2, MALT1

IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 15, 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, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, LEPRECHAUNISM, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, {PSORIASIS SUSCEPTIBILITY 1}, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, {HASHIMOTO THYROIDITIS}, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, IMMUNODEFICIENCY 36, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, {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, ?IMMUNODEFICIENCY 22, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, NCF1, ITPR3, NGF, PRKCD, NRAS, EGFR, CD3D, FAS, PSMB8, NTRK1, CD40LG, IRF7, LEP, NFKB2, HLA-DRB1, NFKB1, WAS, CD3E, TNFAIP3, INSR, FOXP3, PIK3CD, ITGB2, KRAS, BTK, IL10, PLCG2, IL2RA, JAK3, PDGFRA, INS, IKBKB, CTLA4, CD19, HLA-C, ZAP70, LAMTOR2, CD40, B2M, STAT3, IL2RG, MTOR, PIK3R1

IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AGAMMAGLOBULINEMIA, X-LINKED 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {LEPROSY, SUSCEPTIBILITY TO}, ATAXIA-TELANGIECTASIA

ATM, STAT1, NFKBIA, NFKB1, IKBKB, TLR2, IKBKG, NFKB2, BTK

IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 15, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY

NFKBIA, IKBKG, IKBKB, NFKB1, NFKB2

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, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, 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, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, COMMON VARIABLE IMMUNODEFICIENCY 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RHEUMATOID ARTHRITIS, {HASHIMOTO THYROIDITIS}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 36, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

LCK, FASLG, HLA-DRB1, B2M, HLA-DQA1, CD3G, CD247, MTOR, STAT1, ICOS, CD40, HLA-DQB1, STAT3, PIK3R1, PTPRC, INS, IFNGR1, CTLA4, CD3D, TRAC, CD3E

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

CYBB, CYBA, NCF4, NCF1, NCF2

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, ?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 WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AGAMMAGLOBULINEMIA, X-LINKED 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}, ATAXIA-TELANGIECTASIA

ATM, IL10, BCL10, NFKBIA, NFKB1, STAT1, CD40, EGFR, IKBKB, CASP8, INS, TLR2, BTK, IKBKG, NFKB2, ELANE

IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 15, 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, HYPER-IGE RECURRENT INFECTION SYNDROME, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {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, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {HASHIMOTO THYROIDITIS}, 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}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

LCK, NCF1, NGF, PRKCD, NRAS, CD3D, CREBBP, FAS, PSMB8, NTRK1, CD40LG, IRF7, NFKB2, HLA-DRB1, NFKB1, LEP, CD3E, TNFAIP3, INSR, FOXP3, PIK3CD, ITGB2, KRAS, IL10, B2M, IL2RA, JAK3, PDGFRA, INS, IKBKB, CTLA4, CD19, EGFR, ITPR3, LAMTOR2, CD40, STAT3, IL2RG, MTOR, PIK3R1

IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 15, 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, HYPER-IGE RECURRENT INFECTION SYNDROME, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {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, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {HASHIMOTO THYROIDITIS}, 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}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

LCK, NCF1, NGF, PRKCD, NRAS, CD3D, CREBBP, FAS, PSMB8, NTRK1, CD40LG, IRF7, NFKB2, HLA-DRB1, NFKB1, LEP, CD3E, TNFAIP3, INSR, FOXP3, PIK3CD, ITGB2, KRAS, IL10, B2M, IL2RA, JAK3, PDGFRA, INS, IKBKB, CTLA4, CD19, EGFR, ITPR3, LAMTOR2, CD40, STAT3, IL2RG, MTOR, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15

IKBKB, NFKB1, CASP8, MALT1

C8 DEFICIENCY, TYPE I, COMPLEMENT FACTOR H DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, C8 DEFICIENCY, TYPE II, PROPERDIN DEFICIENCY, X-LINKED, C4A DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, COMPLEMENT FACTOR I DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, C2 DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, C3 DEFICIENCY

EGFR, C4A, C2, LEP, CFI, C8A, CFB, CFHR3, CFH, CD40, CD46, C8B, C3, CFP

IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 15, 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, HYPER-IGE RECURRENT INFECTION SYNDROME, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {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, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {HASHIMOTO THYROIDITIS}, 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}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

LCK, NCF1, NGF, PRKCD, NRAS, CD3D, CREBBP, FAS, PSMB8, NTRK1, CD40LG, IRF7, NFKB2, HLA-DRB1, NFKB1, LEP, CD3E, TNFAIP3, INSR, FOXP3, PIK3CD, ITGB2, KRAS, IL10, B2M, IL2RA, JAK3, PDGFRA, INS, IKBKB, CTLA4, CD19, EGFR, ITPR3, LAMTOR2, CD40, STAT3, IL2RG, MTOR, PIK3R1

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

STAT1, NLRC4, CARD9, IKBKG, MTOR, NLRP3, CASP8, TNFAIP3, IKBKB, CD40, TLR2, BCL10, MALT1

IMMUNODEFICIENCY 14, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, IMMUNODEFICIENCY 15, 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, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, {PSORIASIS SUSCEPTIBILITY 1}, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SELECTIVE T-CELL DEFECT, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?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, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RHEUMATOID ARTHRITIS, 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, WISKOTT-ALDRICH SYNDROME, {HASHIMOTO THYROIDITIS}, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, {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, ?IMMUNODEFICIENCY 22, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, NCF1, ITPR3, NGF, PRKCD, NRAS, LAMTOR2, EGFR, CD3D, ISG15, FAS, PSMB8, NTRK1, CD40LG, IRF7, LEP, CIITA, NFKB2, HLA-DRB1, NFKB1, WAS, CD3E, TNFAIP3, INSR, FOXP3, PIK3CD, ITGB2, KRAS, BTK, IL10, PLCG2, IL2RA, JAK3, PDGFRA, INS, IKBKB, CTLA4, CD19, HLA-C, ZAP70, IRF8, CD40, B2M, STAT3, DEAF1, IL2RG, MTOR, PIK3R1

C1Q DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, C1R/C1S DEFICIENCY, COMBINED, PROPERDIN DEFICIENCY, X-LINKED, C2 DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, AGAMMAGLOBULINEMIA 3, C3 DEFICIENCY, IMMUNODEFICIENCY 43, COMPLEMENT FACTOR D DEFICIENCY, SMITH-KINGSMORE SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, MASP2 DEFICIENCY, IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, C4A DEFICIENCY

C1R, CFP, B2M, C2, C3, C4A, CFB, C1QA, C1QB, LEP, MASP2, SERPING1, CFD, IGKC, C1QC, MBL2, MTOR, INS, FCN3, CD79A, NGF

?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 38, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, WHIM SYNDROME, RHEUMATOID ARTHRITIS, ?IMMUNODEFICIENCY 39, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 44, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

CXCR4, TYK2, STAT1, B2M, ISG15, OAS1, IRF3, HLA-DRB1, STAT3, HLA-C, IRF8, STAT2, IL10, EGFR, PSMB8, IFNAR2, IRF7, IRF5

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

FAS, CASP10, FASLG, CASP8, FADD

?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 31C, AUTOSOMAL DOMINANT, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, 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 39, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RHEUMATOID ARTHRITIS, {LEPROSY, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

ATM, STAT1, BCL10, IRF3, NFKB2, NFKB1, IL10, CD40, INS, IKBKB, CASP8, NFKBIA, TLR2, BTK, IKBKG, IRF7, ELANE, FADD

IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 15, 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, HYPER-IGE RECURRENT INFECTION SYNDROME, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, LEUKOCYTE ADHESION DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {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, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {HASHIMOTO THYROIDITIS}, 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}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

LCK, NCF1, NGF, PRKCD, NRAS, CD3D, CREBBP, FAS, PSMB8, NTRK1, CD40LG, IRF7, NFKB2, HLA-DRB1, NFKB1, LEP, CD3E, TNFAIP3, INSR, FOXP3, PIK3CD, ITGB2, KRAS, IL10, B2M, IL2RA, JAK3, PDGFRA, INS, IKBKB, CTLA4, CD19, EGFR, ITPR3, LAMTOR2, CD40, STAT3, IL2RG, MTOR, PIK3R1

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

CYBB, CYBA, NCF4, NCF1, NCF2

PROPERDIN DEFICIENCY, X-LINKED, C4A DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, C3 DEFICIENCY

C2, CFB, C4A, LEP, CFP, C3