IMMUNOLOGY

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY 33, KAPPA LIGHT CHAIN DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, ?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, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MUCKLE-WELLS SYNDROME, ADAMS-OLIVER SYNDROME 3, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, LYMPHOPROLIFERATIVE SYNDROME 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

FASLG, NGF, HTR1A, CASP8, CREBBP, IKBKG, RFXANK, CD40LG, AP3B1, IL12B, HAX1, NFKB1, WAS, CACNA1C, LEP, MTOR, BCL10, CD27, BTK, PRKDC, NLRP3, IL10, C2, NFKBIA, STAT1, STX11, IGKC, GLIS3, GATA2, TLR2, TMEM173, EGFR, IRF8, CD40, STAT3, RBCK1, NFKBIL1, INS, RBPJ, NFKB2, PIK3R1

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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 42, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, CD8 DEFICIENCY, FAMILIAL, SMITH-KINGSMORE SYNDROME, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMPLEMENT FACTOR D DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, IMMUNODEFICIENCY 38, C3 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 43, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, COMPLEMENT FACTOR I DEFICIENCY, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, IMMUNODEFICIENCY 44, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, LEUKOCYTE ADHESION DEFICIENCY, WISKOTT-ALDRICH SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, GRISCELLI SYNDROME, TYPE 2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HYPERTHYROIDISM, NONAUTOIMMUNE, CHEDIAK-HIGASHI SYNDROME, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 10, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, IMMUNODEFICIENCY 9, IMMUNODEFICIENCY 36, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FCGR2A, NRAS, STIM1, IRF5, HBB, ZAP70, NGF, IL2RA, B2M, CIITA, EGFR, HTR1A, PRF1, ISG15, FAS, ORAI1, DOCK8, RORC, IKBKG, LYST, CXCR4, CD40LG, IRF7, KRAS, ITK, AP3B1, LEP, IL12B, IGKC, HLA-DRB1, NFKB1, CFD, IRF3, ITPR3, INSR, NTRK1, FOXP3, PIK3CD, MTOR, ITGB2, THBD, RANBP2, MYO5A, IL10, PLCG2, IFNAR2, CFI, WAS, CD244, PRKCD, STAT1, CD46, GATA2, C3, HLA-C, HAX1, RAB27A, TSHR, SH2D1A, CD8A, VPS45, CREBBP, CD40, SELP, STAT3, STAT2, PTPRC, INS, ABCC8, SERPING1, PIK3R1

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, 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}, AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, IMMUNODEFICIENCY 44, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, 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, SPLENIC HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, ?IMMUNODEFICIENCY 16, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, C2 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, VELOCARDIOFACIAL SYNDROME, MUCKLE-WELLS SYNDROME, ADAMS-OLIVER SYNDROME 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYELOPEROXIDASE DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {PSORIASIS SUSCEPTIBILITY 1}, GRISCELLI SYNDROME, TYPE 1, TIMOTHY SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 33, WHIM SYNDROME, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, DIGEORGE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, BERGER DISEASE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?CHARGE SYNDROME, CHARGE SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, GRISCELLI SYNDROME, TYPE 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, SMITH-KINGSMORE SYNDROME

FERMT3, CIITA, MS4A2, CR2, RAB27A, MYO5A, GCK, BTK, IL4R, RANBP2, GATA2, MPO, PRF1, CD40, RBPJ, CHD7, GH1, KRAS, HTR1A, COPA, CASP8, NKX2-5, CREBBP, IL12B, BUB1B, IKBKG, IL21, LEP, TYK2, IL10, C2, NFKBIA, HLA-DRB1, IRF8, GLIS3, TMEM173, TNFRSF4, TSHR, ITK, STAT3, PTPRC, INS, ABCC8, IRF7, PIGR, FASLG, NCF1, KCNJ11, CD40LG, NLRC4, RORC, FOXP3, ITGB2, ELANE, EGFR, IKBKB, IGKC, HAX1, HNF1A, ITPR3, STAT2, TLR2, LCK, NGF, PRKCD, B2M, JAGN1, CXCR4, JAK3, AP3B1, IRF3, STAT1, NFKB1, WAS, CACNA1C, INSR, FADD, ATM, TBX1, STX11, CTLA4, HLA-C, ADA, SELP, ZAP70, NLRP3, MTOR, PIK3R1

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, KAPPA LIGHT CHAIN DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, 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, COMMON VARIABLE, 11, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 42, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, ?IMMUNODEFICIENCY 16, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MUCKLE-WELLS SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, BERGER DISEASE, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, GRISCELLI SYNDROME, TYPE 2, {LEPROSY, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], IMMUNODEFICIENCY 44, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, HYPERTHYROIDISM, NONAUTOIMMUNE, RUBINSTEIN-TAYBI SYNDROME, ?IMMUNODEFICIENCY 22, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 36, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FASLG, ITK, NGF, PRKCD, IL10, CIITA, CREBBP, JAGN1, FERMT3, RORC, IKBKG, MS4A2, ATM, STAT1, MYO5A, NLRC4, IL12B, IGKC, RAB27A, INSR, IRF3, LEP, ITGB2, FADD, KRAS, GCK, IL4R, B2M, C2, WAS, EGFR, IKBKB, IL21, HLA-DRB1, TMEM173, TNFRSF4, HAX1, AP3B1, TSHR, NLRP3, SELP, ZAP70, STX11, CD40, STAT3, STAT2, PIGR, INS, TLR2, GATA2, PIK3R1

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, {PSORIASIS SUSCEPTIBILITY 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HYPER-IGE RECURRENT INFECTION SYNDROME, TIMOTHY SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ATAXIA-TELANGIECTASIA, WHIM SYNDROME, ?IMMUNODEFICIENCY 16, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, MUCKLE-WELLS SYNDROME, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HYPERTHYROIDISM, NONAUTOIMMUNE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 43, SMITH-KINGSMORE SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

KCNJ11, NGF, IL10, EGFR, ATM, CD40LG, GCK, NFKB1, STAT3, CACNA1C, LEP, FOXP3, MTOR, ITGB2, TNFRSF4, CXCR4, B2M, FASLG, STX11, HLA-C, TSHR, ADA, SELP, CD40, NLRP3, TYK2, INS, ABCC8, IRF7

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, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 21, LEPRECHAUNISM, LEUKOCYTE ADHESION DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, CD8 DEFICIENCY, FAMILIAL, SELECTIVE T-CELL DEFECT, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 43, C3 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, COMPLEMENT FACTOR I DEFICIENCY, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, IMMUNODEFICIENCY 44, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, IMMUNODEFICIENCY 10, WISKOTT-ALDRICH SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, GRISCELLI SYNDROME, TYPE 2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HYPERTHYROIDISM, NONAUTOIMMUNE, CHEDIAK-HIGASHI SYNDROME, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, COMPLEMENT FACTOR D DEFICIENCY, SMITH-KINGSMORE SYNDROME, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, IMMUNODEFICIENCY 9, IMMUNODEFICIENCY 36, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FCGR2A, NRAS, STIM1, IRF5, HBB, ZAP70, NGF, IL2RA, B2M, CIITA, EGFR, HTR1A, PRF1, ISG15, FAS, ORAI1, DOCK8, IKBKG, LYST, CXCR4, CD40LG, IRF7, KRAS, ITK, AP3B1, LEP, IL12B, IGKC, HLA-DRB1, NFKB1, CFD, IRF3, ITPR3, INSR, NTRK1, FOXP3, PIK3CD, MTOR, ITGB2, THBD, RANBP2, MYO5A, IL10, PLCG2, IFNAR2, CFI, WAS, CD244, PRKCD, STAT1, CD46, GATA2, C3, HLA-C, HAX1, RAB27A, TSHR, SH2D1A, CD8A, VPS45, CREBBP, CD40, SELP, STAT3, STAT2, PTPRC, INS, ABCC8, SERPING1, 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, CD8 DEFICIENCY, FAMILIAL, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, RHEUMATOID ARTHRITIS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 21, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, IMMUNODEFICIENCY 36, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED

LCK, EGFR, ADA, GATA2, ZAP70, IL10, CD3E, CD3D, FOXP3, PTPRC, INS, TLR2, CD8A, 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, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 43, RHEUMATOID ARTHRITIS, C2 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}

B2M, C2, IL7R, HLA-DRB1, CREBBP, FOXP3, PTPRC

IMMUNODEFICIENCY 12, ATAXIA-TELANGIECTASIA, ?IMMUNODEFICIENCY 25, KAPPA LIGHT CHAIN DEFICIENCY, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, LEUKOCYTE ADHESION DEFICIENCY, CD8 DEFICIENCY, FAMILIAL, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 30, C2 DEFICIENCY, IMMUNODEFICIENCY 43, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, COMPLEMENT FACTOR I DEFICIENCY, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, 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}, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY 36, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

LCK, FASLG, IL7R, IL10, HLA-C, CREBBP, IRF5, FAS, CD8A, IL12B, IL12RB1, ATM, STAT1, IRF7, IGKC, HLA-DRB1, CR2, CFI, FOXP3, ITGB2, FADD, BTK, PRKDC, B2M, PTPRC, C2, CD247, JAK3, TBX21, C3, MALT1, EGFR, SH2D1A, IRF8, CD40, STAT3, TFRC, TYK2, RBPJ, IL21, PIK3R1

IMMUNODEFICIENCY 12, ATAXIA-TELANGIECTASIA, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, C3 DEFICIENCY, {PSORIASIS SUSCEPTIBILITY 1}, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, LEUKOCYTE ADHESION DEFICIENCY, CD8 DEFICIENCY, FAMILIAL, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 30, ?IMMUNODEFICIENCY 39, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 36, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35

B2M, CREBBP, CD8A, IL12B, IL12RB1, ATM, IRF7, STAT3, FOXP3, ITGB2, FADD, IL10, PTPRC, HLA-C, IRF8, IL21, C3, FASLG, SH2D1A, CD40, CR2, PIK3R1, TYK2, RBPJ, IGKC, MALT1

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, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 43, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, RHEUMATOID ARTHRITIS, C2 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}

B2M, C2, IL7R, HLA-DRB1, CREBBP, JAK3, FOXP3, PTPRC

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY 12, ATAXIA-TELANGIECTASIA, ?IMMUNODEFICIENCY 25, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 42, C3 DEFICIENCY, {PSORIASIS SUSCEPTIBILITY 1}, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, LEUKOCYTE ADHESION DEFICIENCY, CD8 DEFICIENCY, FAMILIAL, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 30, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, C2 DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, COMPLEMENT FACTOR I DEFICIENCY, IMMUNODEFICIENCY 44, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY, COMMON VARIABLE, 7, 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, COMMON VARIABLE, 11, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 46, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RUBINSTEIN-TAYBI SYNDROME, ?IMMUNODEFICIENCY 22, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

LCK, FASLG, IL7R, PRKCD, IL10, STX11, CREBBP, IRF5, FAS, CD8A, RORC, IL12B, IL12RB1, ATM, STAT1, IRF7, IGKC, HLA-DRB1, CR2, CD3E, CFI, FOXP3, MS4A2, ITGB2, FADD, BTK, PRKDC, B2M, PTPRC, C2, CD247, HLA-C, TBX21, C3, MALT1, EGFR, SH2D1A, GH1, IRF8, CD40, JAK3, STAT3, STAT2, TFRC, TYK2, INS, RBPJ, IL21, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 12, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {PSORIASIS SUSCEPTIBILITY 1}, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, WHIM SYNDROME, ?IMMUNODEFICIENCY 16, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {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}, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY 36, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

LCK, CD40LG, IL10, CASP8, HLA-C, CREBBP, FAS, BCL10, ATM, STAT1, IL21, FOXP3, TNFRSF4, FADD, BTK, PRKDC, CXCR4, B2M, PTPRC, PIK3R1, FASLG, TBX21, EGFR, CD40, JAK3, STAT3, TFRC, TYK2, INS, TLR2, IRF7, MALT1

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 12, {PSORIASIS SUSCEPTIBILITY 1}, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, C2 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 43, ?IMMUNODEFICIENCY 39, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CD8 DEFICIENCY, FAMILIAL, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, IMMUNODEFICIENCY 35, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

FASLG, HLA-C, B2M, TYK2, C2, IL10, IL7R, EGFR, CD40, IRF3, MALT1, CD8A, IRF8, FOXP3, CREBBP, PTPRC, FADD, IL12B, IRF7, IL12RB1

IMMUNODEFICIENCY 12, ATAXIA-TELANGIECTASIA, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, C3 DEFICIENCY, {PSORIASIS SUSCEPTIBILITY 1}, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, LEUKOCYTE ADHESION DEFICIENCY, CD8 DEFICIENCY, FAMILIAL, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 30, ?IMMUNODEFICIENCY 39, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 36, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35

B2M, CREBBP, CD8A, IL12B, IL12RB1, ATM, IRF7, STAT3, FOXP3, ITGB2, FADD, IL10, PTPRC, HLA-C, IRF8, IL21, C3, FASLG, SH2D1A, CD40, CR2, PIK3R1, TYK2, RBPJ, IGKC, MALT1

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SICKLE CELL ANEMIA, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, AGAMMAGLOBULINEMIA, X-LINKED 1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SPLENIC HYPOPLASIA, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 16, RUBINSTEIN-TAYBI SYNDROME, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, ADAMS-OLIVER SYNDROME 3, [BLOOD GROUP, DUFFY SYSTEM], HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYELOPEROXIDASE DEFICIENCY, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, 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}, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, BERGER DISEASE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, C1Q DEFICIENCY, IMMUNODEFICIENCY 42, PEELING SKIN SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, PROPERDIN DEFICIENCY, X-LINKED, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MASP2 DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, C4A DEFICIENCY, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, SMITH-KINGSMORE SYNDROME

CYBA, HBB, IFIH1, FAS, CD8A, IKBKG, ACP5, IRF7, INSR, BTK, IL4R, IGHM, IL21R, PRF1, MASP2, GATA2, MPO, TFRC, CREBBP, RBPJ, KRAS, COPA, CASP8, NKX2-5, CD40, ISG15, IFNAR2, IL12B, CARD9, CIITA, IL21, HAVCR1, LEP, PIK3CD, GFPT1, IL10, C2, CD247, NFKBIA, C4A, STAT1, IRF8, NCF2, C3, TMEM173, TNFRSF4, TSHR, ITK, CFP, WAS, TYK2, INS, IFNGR1, RORC, MALT1, FASLG, NCF1, KCNJ11, CDSN, IL2RA, OAS1, C1R, HLA-DRB1, NLRC4, NFKB2, FOXP3, C1QA, CYBB, ELANE, PRKDC, ACKR1, HLA-C, TBX21, IGKC, RPSA, GFI1, HNF1A, THBD, STAT2, TPI1, NFKBIL1, STAT3, TLR2, SELP, LCK, DDX41, IRF5, IFNGR2, AICDA, NGF, PRKCD, B2M, PTGER2, BCL10, LYST, RFXANK, ATM, TNFAIP3, IRF3, NFKB1, NLRP3, CD19, FADD, CFB, CXCR4, PLCG2, PTPRC, RPL11, MBL2, ADAM17, ABCC8, EGFR, NHP2, ZAP70, IKBKB, CR2, PIGR, MTOR, PIK3R1

ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, BLOOM SYNDROME, IMMUNODEFICIENCY 8, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, C3 DEFICIENCY, WHIM SYNDROME, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NIJMEGEN BREAKAGE SYNDROME, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, FILS SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ADAMS-OLIVER SYNDROME 3, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, BERGER DISEASE, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, KAPPA LIGHT CHAIN DEFICIENCY, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 21, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, IMMUNODEFICIENCY 43, SMITH-KINGSMORE SYNDROME, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

FASLG, NCF1, CYBA, CYBB, CREBBP, PTGER2, PTRF, NTRK1, ATM, ACP5, DCLRE1C, IL12B, CORO1A, DKC1, LEP, MTOR, POLE, KRAS, BLM, PRKDC, CXCR4, B2M, C2, HLA-DRB1, RTEL1, GATA2, C3, NBN, CUBN, EGFR, NHP2, ZAP70, CD40, SELP, STAT3, STAT2, PIGR, INS, RBPJ, IGKC, PIK3R1

INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, LEPRECHAUNISM, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, SELECTIVE T-CELL DEFECT, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 30, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, AGAMMAGLOBULINEMIA, X-LINKED 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, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, ITK, NGF, PRKCD, NTRK1, IL12RB1, INSR, JAK3, IL12B, STAT3, LEP, BTK, PRKDC, COPA, EGFR, PDGFRA, NCF4, FASLG, ZAP70, CD40, WAS, TYK2, PIK3R1

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, 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, 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, AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, VELOCARDIOFACIAL SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, HELSMOORTEL-VAN DER AA SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SPLENIC HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CD8 DEFICIENCY, FAMILIAL, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYELOPEROXIDASE DEFICIENCY, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, DIGEORGE SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?CHARGE SYNDROME, CHARGE SYNDROME, {LEPROSY, SUSCEPTIBILITY TO}, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OGDEN SYNDROME, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, BRANCHIOOCULOFACIAL SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ROUSSY-LEVY SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, MYOTONIC DYSTROPHY 2, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, SMITH-KINGSMORE SYNDROME

NAA10, RAG1, FAS, FERMT3, CIITA, IRF7, BCL10, BTK, B2M, MPO, PRF1, ERCC2, UNG, CNBP, CREBBP, RBCK1, RBPJ, CHD7, KRAS, HTR1A, CASP8, PTPRC, NKX2-5, CD40, ISG15, CD79A, CD8A, IKBKG, MTOR, CD3E, LEP, PIK3CD, HELLS, NFKBIA, IL10, PSMB8, CD27, HLA-DRB1, VPS33B, IRF8, GLIS3, MPZ, TSHR, WAS, TBX1, INS, RORC, MALT1, FASLG, IL7R, CD40LG, NLRC4, NFKB2, ITGB2, CYBB, ELANE, PRKDC, EGFR, IKBKB, IGKC, RPSA, HAX1, HNF1A, DNMT3B, XRCC4, TFAP2A, PAX4, STAT2, TLR2, LCK, NRAS, IRF5, NGF, PRKCD, IL17RA, DOCK8, NTRK1, RFXANK, ATM, TNFAIP3, IL12B, IRF3, STAT1, NFKB1, STAT3, INSR, FADD, BLM, CXCR4, PLCG2, TYK2, JAK3, STX11, HLA-C, ADNP, ADA, SELP, GATA2, PIK3R1

IMMUNODEFICIENCY 12, ATAXIA-TELANGIECTASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, C3 DEFICIENCY, {PSORIASIS SUSCEPTIBILITY 1}, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35

FASLG, TNFRSF13C, IL10, FAS, IKBKG, IL12RB1, ATM, CD40LG, IL12B, IRF7, HLA-DRB1, CR2, FOXP3, ITGB2, FADD, B2M, PTPRC, STAT1, IRF8, C3, HLA-C, ADA, CREBBP, STAT3, PIK3R1, TYK2, RBPJ, MALT1

{ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], ATAXIA-TELANGIECTASIA, {HASHIMOTO THYROIDITIS}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 30, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?IMMUNODEFICIENCY 37, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE

ATM, EGFR, IL12B, TBX21, IL4R, CD40, JAK3, STAT3, CREBBP, BCL10, CTLA4, IL12RB1

IMMUNODEFICIENCY 12, ATAXIA-TELANGIECTASIA, KAPPA LIGHT CHAIN DEFICIENCY, C2 DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, C3 DEFICIENCY, {PSORIASIS SUSCEPTIBILITY 1}, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, CD8 DEFICIENCY, FAMILIAL, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, COMPLEMENT FACTOR I DEFICIENCY, IMMUNODEFICIENCY 44, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 46, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 30, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

LCK, FASLG, IL7R, CD40LG, TNFRSF13C, ICOS, HLA-C, IL4R, IL10, IRF5, FAS, CD8A, IKBKG, IL12RB1, ATM, STAT1, BCL10, IGKC, HLA-DRB1, CR2, CD3E, TNFAIP3, FOXP3, ITGB2, FADD, BTK, PRKDC, B2M, CREBBP, PTPRC, C2, CFI, JAK3, TBX21, C3, MALT1, EGFR, IL12B, ADA, IRF8, CD40, STAT3, STAT2, TFRC, TYK2, RBPJ, IRF7, PIK3R1

IMMUNODEFICIENCY 12, ATAXIA-TELANGIECTASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, C3 DEFICIENCY, {PSORIASIS SUSCEPTIBILITY 1}, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35

FASLG, TNFRSF13C, IL10, CIITA, FAS, IKBKG, IL12RB1, ATM, CD40LG, IL12B, IRF7, HLA-DRB1, CR2, FOXP3, ITGB2, FADD, B2M, PTPRC, STAT1, IRF8, C3, HLA-C, ADA, CREBBP, STAT3, PIK3R1, TYK2, RBPJ, MALT1

THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 37, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, HYPER-IGE RECURRENT INFECTION SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, WISKOTT-ALDRICH SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 7, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {LEPROSY, SUSCEPTIBILITY TO}, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

FASLG, IL10, CARD9, WAS, IGKC, STAT1, RPL11, EGFR, CD40, STAT3, ACP5, MBL2, INS, TLR2, BCL10, FADD

C8 DEFICIENCY, TYPE I, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, C3 DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?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, PROPERDIN DEFICIENCY, X-LINKED, {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, MUCKLE-WELLS SYNDROME, SMITH-KINGSMORE SYNDROME, RHEUMATOID ARTHRITIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, COMPLEMENT FACTOR H DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPERTHYROIDISM, NONAUTOIMMUNE, C4A DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

LCK, NGF, CFB, CD46, LEP, MTOR, IL10, C2, CFI, C4A, CFH, MASP2, C3, EGFR, TSHR, SERPING1, C8A, CFP, CD40, NLRP3, C8B, INS, STAT3, HAX1, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 14, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, BLOOM SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, C3 DEFICIENCY, {PSORIASIS SUSCEPTIBILITY 1}, WHIM SYNDROME, SMITH-KINGSMORE SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?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, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, IMMUNODEFICIENCY 38, BARTH SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], IMMUNODEFICIENCY 8, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPERTHYROIDISM, NONAUTOIMMUNE, RUBINSTEIN-TAYBI SYNDROME, ?IMMUNODEFICIENCY 22, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, IMMUNODEFICIENCY 36, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

LCK, SERAC1, NGF, PRKCD, FCGR2B, CASP8, CFD, CREBBP, ISG15, CD79A, CHAT, ATM, TAZ, CORO1A, CD46, LEP, PIK3CD, MTOR, KRAS, BLM, CXCR4, COPA, PLCG2, EGFR, C3, RBPJ, HLA-C, TSHR, SELP, SLC22A4, STAT3, STAT2, INS, CD81, HAX1, PIK3R1

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, NIJMEGEN BREAKAGE SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, ?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, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AGAMMAGLOBULINEMIA, X-LINKED 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, IMMUNODEFICIENCY 44, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, 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, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, VELOCARDIOFACIAL SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, IMMUNODEFICIENCY 12, ?IMMUNODEFICIENCY 25, AGAMMAGLOBULINEMIA 6, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, DIGEORGE SYNDROME, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, IMMUNODEFICIENCY 10, IMMUNODEFICIENCY, COMMON VARIABLE, 13, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 13, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, BRANCHIOOCULOFACIAL SYNDROME, C3 DEFICIENCY, KENNY-CAFFEY SYNDROME, TYPE 1, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, ?CANDIDIASIS, FAMILIAL, 8, LYMPHOPROLIFERATIVE SYNDROME 2, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, DIAMOND-BLACKFAN ANEMIA 7, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, SMITH-KINGSMORE SYNDROME

IFIH1, FAS, FERMT3, IKBKG, NBN, IRF7, GCK, BTK, IL4R, IL21R, TFRC, MPO, PRF1, CREBBP, CD79B, RBPJ, DOK7, KRAS, HTR1A, IL10, CASP8, PTPRC, TFAP2A, CD40, ISG15, IFNAR2, IL12B, CARD9, IL21, CD3E, LEP, GFPT1, COPA, C2, CD247, CD27, HLA-DRB1, IRF8, C3, CD81, TSHR, LAMTOR2, STAT3, TBX1, INS, RORC, MALT1, NCF1, STIM1, UNC119, SMAD9, C1R, CD40LG, NFKB2, FOXP3, ITGB2, CYBB, ELANE, PRKDC, B2M, CARD11, FASLG, IKBKB, IGKC, GFI1, HAX1, GH1, STAT2, SKIV2L, TLR2, SELP, LCK, NRAS, IRF5, NGF, PRKCD, IKZF1, CD46, PTGER2, NTRK1, TRAF3IP2, ATM, BCL10, IRF3, STAT1, NFKB1, WAS, TBCE, CACNA1C, INSR, FADD, CXCR4, TYK2, RPL11, PDGFRA, STX11, ADAM17, CHAT, EGFR, DNMT3B, NHP2, CR2, MTOR, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 15, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NIEMANN-PICK DISEASE, TYPE A, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SPLENIC HYPOPLASIA, LEUKOCYTE ADHESION DEFICIENCY, ATAXIA-TELANGIECTASIA, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, WHIM SYNDROME, SMITH-KINGSMORE SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, MYOTONIC DYSTROPHY 2, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HYPERTHYROIDISM, NONAUTOIMMUNE, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

LCK, FASLG, NCF1, CD79A, SMPD1, PRKCD, NRAS, CASP8, NKX2-5, IL12B, ATM, STAT1, KRAS, IKBKG, MTOR, DKC1, TNFAIP3, INSR, FOXP3, ITGB2, BCL10, NGF, BTK, PRKDC, CXCR4, IL4R, PTPRC, IL10, EGFR, PDGFRA, IKBKB, SMAD9, CD19, HLA-C, TSHR, NTRK1, CNBP, CREBBP, SELP, STAT3, STAT2, TYK2, INS, GATA2, PIK3R1

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SICKLE CELL ANEMIA, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, AGAMMAGLOBULINEMIA, X-LINKED 1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SPLENIC HYPOPLASIA, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 16, RUBINSTEIN-TAYBI SYNDROME, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, ADAMS-OLIVER SYNDROME 3, [BLOOD GROUP, DUFFY SYSTEM], HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYELOPEROXIDASE DEFICIENCY, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, 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}, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, C4A DEFICIENCY, C1Q DEFICIENCY, IMMUNODEFICIENCY 42, PEELING SKIN SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, PROPERDIN DEFICIENCY, X-LINKED, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MASP2 DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, SMITH-KINGSMORE SYNDROME

CYBA, HBB, IFIH1, FAS, CD8A, IKBKG, ACP5, IRF7, GCK, INSR, BTK, IL4R, IGHM, IL21R, PRF1, MASP2, GATA2, MPO, TFRC, CREBBP, RBPJ, KRAS, COPA, CASP8, EGFR, NKX2-5, CD40, ISG15, IFNAR2, IL12B, CARD9, CIITA, IL21, HAVCR1, LEP, PIK3CD, GFPT1, IL10, C2, CD247, NFKBIA, C4A, STAT1, IRF8, NCF2, C3, TMEM173, TNFRSF4, TSHR, ITK, CFP, WAS, TYK2, INS, IFNGR1, RORC, MALT1, NCF1, KCNJ11, CDSN, IL2RA, OAS1, C1R, HLA-DRB1, NLRC4, NFKB2, FOXP3, C1QA, CYBB, ELANE, PRKDC, ACKR1, FASLG, TBX21, IGKC, RPSA, GFI1, HNF1A, THBD, STAT2, TPI1, NFKBIL1, SKIV2L, STAT3, TLR2, SELP, LCK, DDX41, IRF5, IFNGR2, AICDA, NGF, PRKCD, B2M, PTGER2, BCL10, LYST, RFXANK, ATM, TNFAIP3, IRF3, NFKB1, NLRP3, CD19, FADD, CFB, CXCR4, PLCG2, PTPRC, RPL11, MBL2, ADAM17, ABCC8, HLA-C, NHP2, ZAP70, IKBKB, CR2, PIGR, MTOR, PIK3R1

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 37, HYPER-IGE RECURRENT INFECTION SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, ?IMMUNODEFICIENCY 39, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 44, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

IRF7, BCL10, IRF3, NFKB1, IL17RA, STAT3, STAT2, CREBBP, IL12B, NGF, PIK3R1

STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, ?IMMUNODEFICIENCY 39, IMMUNODEFICIENCY 44, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, {LEPROSY, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

CD40, IFNAR2, CIITA, CXCR4, STAT1, BCL10, IRF7, BTK, B2M, CARD9, NFKBIA, IKBKG, IGKC, ABCC8, TMEM173, EGFR, CREBBP, STAT3, STAT2, TLR2, IRF3, PIK3R1

STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, ?IMMUNODEFICIENCY 39, IMMUNODEFICIENCY 44, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, {LEPROSY, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

CXCR4, TMEM173, STAT1, IRF7, CARD9, BCL10, IRF3, B2M, CD40, IKBKG, EGFR, STAT3, IGKC, STAT2, BTK, ABCC8, IFNAR2, CIITA, NFKBIA, TLR2

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {PSORIASIS SUSCEPTIBILITY 1}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, {HASHIMOTO THYROIDITIS}, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY

LCK, TNFRSF13C, IL10, IL17RA, HLA-C, CREBBP, IKBKG, STAT1, IRF7, CARD9, CIITA, IL21, HLA-DRB1, NFKB1, CR2, CD3E, IRF3, LEP, FOXP3, BCL10, ELANE, B2M, CARD11, IL21R, CD40LG, TBX21, CASP8, CTLA4, TMEM173, EGFR, IL12B, CD40, STAT3, BTK, TLR2, IGKC, PIK3R1

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CANDIDIASIS, FAMILIAL, 9, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AGAMMAGLOBULINEMIA, X-LINKED 1, IMMUNODEFICIENCY 44, SYSTEMIC LUPUS ERYTHEMATOSUS 16, 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, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SPLENIC HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ?IMMUNODEFICIENCY 16, RUBINSTEIN-TAYBI SYNDROME, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, VELOCARDIOFACIAL SYNDROME, MUCKLE-WELLS SYNDROME, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 14, {PSORIASIS SUSCEPTIBILITY 1}, GRISCELLI SYNDROME, TYPE 1, NIEMANN-PICK DISEASE, TYPE A, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, ARTS SYNDROME, DIGEORGE SYNDROME, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, C4A DEFICIENCY, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, PEELING SKIN SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ROUSSY-LEVY SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ?CANDIDIASIS, FAMILIAL, 8, LYMPHOPROLIFERATIVE SYNDROME 2, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 46, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, SMITH-KINGSMORE SYNDROME

TREX1, CD3D, CASP10, FAS, IKBKG, IRF7, MYO5A, DSG1, CDSN, BTK, IL4R, DNASE1, PRPS1, RANBP2, TFRC, MBL2, GATA2, POLE, NCF4, PRF1, ERCC2, CREBBP, DNASE1L3, RBPJ, KRAS, IL10, CASP8, EGFR, NKX2-5, CD40, ISG15, LYST, IL12B, BUB1B, CIITA, IL21, CD3E, LEP, PIK3CD, NFKBIA, COPA, PSMB8, TRAF3IP2, CD27, C4A, HLA-DRB1, IRF8, MPZ, TMEM173, TNFRSF4, TSHR, AICDA, WAS, TBX1, INS, IGKC, NCF1, SMPD1, IL2RA, SMAD9, CD40LG, NLRC4, NFKB2, FOXP3, ITGB2, CYBB, ELANE, PRKDC, FASLG, TBX21, HNF1A, ITPR3, STAT2, TLR2, LCK, DDX41, IRF5, NGF, PRKCD, B2M, GJB2, PTGER2, PMP22, NTRK1, IFNAR2, IL17RC, ATM, TNFAIP3, AP3B1, BCL10, IRF3, STAT1, NFKB1, STAT3, INSR, CLPB, FADD, CXCR4, PTPRC, TYK2, JAK3, PDGFRA, STX11, ADAM17, HLA-C, ADA, ZAP70, IKBKB, NLRP3, MTOR, PIK3R1

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {PSORIASIS SUSCEPTIBILITY 1}, {HASHIMOTO THYROIDITIS}, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, RHEUMATOID ARTHRITIS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

HLA-C, B2M, IRF3, CD40LG, NFKB1, IL10, CREBBP, STAT3, FOXP3, INS, CTLA4, ELANE

{SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 15, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {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 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, BLOOM SYNDROME, LEPRECHAUNISM, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, C3 DEFICIENCY, ATAXIA-TELANGIECTASIA, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 16, SELECTIVE T-CELL DEFECT, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 30, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 8, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, {HASHIMOTO THYROIDITIS}, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, 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}, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, COMMON VARIABLE IMMUNODEFICIENCY 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

LCK, FASLG, NGF, IL2RA, IL10, CREBBP, CD8A, IKBKG, IL12RB1, ATM, STAT1, IRF7, TNFRSF13C, CIITA, CORO1A, HLA-DRB1, CD46, CD3E, INSR, FOXP3, TNFRSF4, FADD, KRAS, BLM, ICOS, B2M, CARD11, PRKCD, PNP, CD40LG, VPS33B, IKBKB, IL21, C3, CTLA4, EGFR, IL12B, ADA, SELP, ZAP70, IRF8, CD40, JAK3, STAT3, BTK, PTPRC, INS, IGKC, PIK3R1

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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 42, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, WHIM SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SPLENIC HYPOPLASIA, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, C3 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PEELING SKIN SYNDROME 1, ?IMMUNODEFICIENCY 39, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, AGAMMAGLOBULINEMIA 3, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?CHARGE SYNDROME, CHARGE SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, NETHERTON SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

CCBE1, C3AR1, CDSN, IL2RA, IL17RA, NKX2-5, CD40, FAS, SEMA3E, CD79A, CXCR4, STAT1, IRF7, IL12B, RORC, WAS, TNFAIP3, LEP, FOXP3, BTK, KRAS, TPI1, PRKDC, FASLG, IKBKB, C3, SMAD9, EGFR, DNMT3B, TSHR, NTRK1, ITPR3, CREBBP, SPINK5, SELP, STAT3, STAT2, ELANE, TYK2, INS, RBPJ, GATA2, PIK3R1

IMMUNODEFICIENCY 12, ATAXIA-TELANGIECTASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, C3 DEFICIENCY, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 45, WHIM SYNDROME, ?IMMUNODEFICIENCY 16, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, IMMUNODEFICIENCY 40, ?IMMUNODEFICIENCY 39, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, 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-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 5, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SMITH-KINGSMORE SYNDROME

LCK, IL7R, PRKCD, ICOS, HLA-C, PRF1, DOCK8, CD79A, IFNAR2, ATM, STAT1, IRF7, IGKC, CR2, CD19, DOCK2, TNFRSF4, HELLS, CXCR4, B2M, IL10, CD40LG, GATA2, C3, MS4A1, EGFR, DNMT3B, RAG2, CD40, JAK3, STAT3, STAT2, PTPRC, MTOR, MALT1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPLENIC HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ATAXIA-TELANGIECTASIA, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, ?IMMUNODEFICIENCY 16, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MUCKLE-WELLS SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, SMITH-KINGSMORE SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 2, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, GRISCELLI SYNDROME, TYPE 2, {LEPROSY, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 36, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

FASLG, NGF, HTR1A, IL4R, CASP8, EGFR, NKX2-5, JAGN1, FERMT3, IKBKG, ATM, CD40LG, NLRC4, IL12B, HAX1, HLA-DRB1, NFKB1, WAS, IRF3, LEP, RAB27A, MTOR, ITGB2, FADD, BTK, ELANE, PRKDC, NLRP3, B2M, C2, IL10, CD27, STAT1, STX11, IGKC, TMEM173, TNFRSF4, AP3B1, TSHR, SELP, ITK, IKBKB, CD40, CIITA, STAT3, RBCK1, PTPRC, INS, TLR2, GATA2, PIK3R1

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, 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}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, IMMUNODEFICIENCY 43, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, SPLENIC HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, ?IMMUNODEFICIENCY 16, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, MUCKLE-WELLS SYNDROME, ADAMS-OLIVER SYNDROME 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYELOPEROXIDASE DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, IMMUNODEFICIENCY 14, {PSORIASIS SUSCEPTIBILITY 1}, TIMOTHY SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, COMPLEMENT FACTOR H DEFICIENCY, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OGDEN SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, LEUKOCYTE ADHESION DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ?CANDIDIASIS, FAMILIAL, 8, LYMPHOPROLIFERATIVE SYNDROME 2, GRISCELLI SYNDROME, TYPE 2, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME

LCK, FASLG, IRF8, ITK, NGF, NFKB2, HTR1A, COPA, CIITA, STX11, EGFR, NKX2-5, IL4R, PRF1, JAGN1, FAS, IFNAR2, IKBKG, FERMT3, RFXANK, ATM, CD40LG, IRF7, KRAS, NLRC4, IL12B, HAX1, STAT1, NFKB1, CFH, IRF3, CACNA1C, THBD, LEP, FOXP3, RAB27A, PIK3CD, MTOR, ITGB2, TNFRSF4, FADD, BTK, CD27, ELANE, PRKDC, CXCR4, B2M, CREBBP, TRAF3IP2, PTPRC, C2, IL10, WAS, NFKBIA, HLA-DRB1, IKBKB, GLIS3, CASP8, GATA2, BCL10, CTLA4, TLR2, MPO, TMEM173, HLA-C, HNF1A, AP3B1, TSHR, NLRP3, SELP, ZAP70, NAA10, CD40, STAT3, TFRC, NFKBIL1, RBCK1, INS, RBPJ, IGKC, PIK3R1

ATAXIA-TELANGIECTASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, TIMOTHY SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, WHIM SYNDROME, ?IMMUNODEFICIENCY 16, ?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, C2 DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, MUCKLE-WELLS SYNDROME, ADAMS-OLIVER SYNDROME 3, RHEUMATOID ARTHRITIS, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 43, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SMITH-KINGSMORE SYNDROME

COPA, EGFR, BCL10, RFXANK, ATM, CD40LG, NFKB2, NFKB1, STAT3, CACNA1C, FOXP3, MTOR, TNFRSF4, CXCR4, B2M, C2, IL10, NFKBIA, HLA-C, GLIS3, FASLG, SELP, NLRP3, NFKBIL1, INS, RBPJ, IRF7

{ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYELOPEROXIDASE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}

IL10, MPO, SELP, MBL2, IRF8, INS, TLR2, IL12B, ELANE

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, NIJMEGEN BREAKAGE SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, ?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, AGAMMAGLOBULINEMIA, X-LINKED 1, KENNY-CAFFEY SYNDROME, TYPE 1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SPLENIC HYPOPLASIA, 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, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], ?IMMUNODEFICIENCY 13, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 12, ?IMMUNODEFICIENCY 25, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 13, 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}, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, AGAMMAGLOBULINEMIA 6, LEUKOCYTE ADHESION DEFICIENCY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ?CANDIDIASIS, FAMILIAL, 8, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SMITH-KINGSMORE SYNDROME

LCK, FASLG, NRAS, RPSA, ISG15, DOK7, IRF8, DKC1, NGF, PRKCD, COPA, CASP8, LAMTOR2, IL10, PTGER2, FAS, TRAF3IP2, IKBKG, FERMT3, ATM, CD40LG, IRF7, KRAS, LEP, SMAD9, IGKC, GCK, NFKB1, WAS, TBCE, TFRC, INSR, FOXP3, MTOR, ITGB2, BCL10, BTK, GFPT1, CYBB, ELANE, CXCR4, IKZF1, CREBBP, PSMB8, PTPRC, CARD11, CD247, SELP, GFI1, STAT1, PDGFRA, STX11, ADAM17, UNC119, C3, NBN, CD81, MALT1, EGFR, TSHR, CD79B, NTRK1, GH1, IKBKB, CD40, B2M, STAT3, STAT2, RBPJ, TYK2, INS, TLR2, NFKB2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, AGAMMAGLOBULINEMIA 6, IMMUNODEFICIENCY 14, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA 4, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?CHARGE SYNDROME, CHARGE SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, LEUKOCYTE ADHESION DEFICIENCY, SMITH-KINGSMORE SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMPLEMENT FACTOR D DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 43, C3 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, ?IMMUNODEFICIENCY 39, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, MASP2 DEFICIENCY, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, TRICHOHEPATOENTERIC SYNDROME 2, LYMPHOPROLIFERATIVE SYNDROME 2, WHIM SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, TRICHOHEPATOENTERIC SYNDROME 1, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, KAPPA LIGHT CHAIN DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NETHERTON SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, C4A DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, OMENN SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 36, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FCGR2A, RAG1, CYBA, NGF, IL2RA, B2M, GJB2, CD40, ISG15, SEMA3E, CD79A, CXCR4, CD40LG, IRF7, TTC37, LEP, IL12B, HAX1, NFKB1, STAT3, IRF3, INSR, PIK3CD, MTOR, ITGB2, GFPT1, ELANE, PRKDC, CFD, IL10, PRKCD, CD27, C4A, STAT1, MASP2, IRF8, BLNK, ADAM17, C3, FASLG, CD81, CD19, EGFR, TSHR, CUBN, SERPING1, CREBBP, SPINK5, SELP, CD79B, CASP8, PTPRC, SKIV2L, INS, RBPJ, IGKC, PIK3R1

C8 DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, C8 DEFICIENCY, TYPE II, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {HASHIMOTO THYROIDITIS}, {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, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, BERGER DISEASE, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, 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, ADAMS-OLIVER SYNDROME 3, 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, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYELOPEROXIDASE DEFICIENCY, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, HERMANSKY-PUDLAK SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, 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, AGAMMAGLOBULINEMIA 6, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, IMMUNODEFICIENCY 33, WHIM SYNDROME, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY 14, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 8, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY, COMMON VARIABLE, 13, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 5, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {LEPROSY, SUSCEPTIBILITY TO}, COMPLEMENT FACTOR H DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OGDEN SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, COMMON VARIABLE IMMUNODEFICIENCY 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, C1Q DEFICIENCY, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, PROPERDIN DEFICIENCY, X-LINKED, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, COMPLEMENT FACTOR I DEFICIENCY, MASP2 DEFICIENCY, 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, WISKOTT-ALDRICH SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 46, C4A DEFICIENCY, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

C3AR1, CD3D, NAA10, IFIH1, FAS, FERMT3, IKBKG, MS4A2, IKZF1, IGKC, INSR, BTK, CFD, DOCK2, IGHM, IL21R, TFRC, MASP2, MPO, NCF4, MS4A1, PRF1, SERPING1, CREBBP, CD79B, RBCK1, HLA-DQA1, CD81, C1QC, GH1, KRAS, NFKB2, TNFRSF13C, IL10, CASP8, EGFR, CD40, ISG15, FCN3, CD79A, CD8A, C2, CIITA, GATA2, CFP, CD3E, LEP, PIK3CD, NFKBIA, ICOS, CARD9, CD247, CD27, C4A, HLA-DRB1, VPS33B, IRF8, C3, RBPJ, FCGR2A, TMEM173, TNFRSF4, TSHR, SH2D1A, ITK, STAT3, TYK2, INS, IFNGR1, IRF7, MALT1, FASLG, NCF1, IL7R, IL2RA, BLNK, IL12RB1, C1R, CD40LG, NLRC4, PNP, RORC, FOXP3, MTOR, ITGB2, C1QA, ELANE, PRKDC, B2M, CARD11, CFI, C1QB, HLA-DQB1, IKBKB, IRF5, HNF1A, ITPR3, PTPN22, ADA, CFH, STAT2, TRAC, TLR2, LCK, PLA2G7, CORO1A, ZAP70, NGF, PRKCD, IL4R, CD46, BCL10, LYST, ATM, TNFAIP3, AP3B1, IL12B, IRF3, STAT1, NFKB1, WAS, CACNA1C, CD19, FADD, CFB, BLM, CXCR4, PLCG2, PTPRC, CD3G, RPL11, JAK3, FCGR3A, STX11, MBL2, ADAM17, CTLA4, HLA-C, CFHR1, SELP, C8A, TBX21, CR2, PIGR, C8B, IL21, PIK3R1

IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {PSORIASIS SUSCEPTIBILITY 1}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, IMMUNODEFICIENCY 42, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY 15, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, WHIM SYNDROME, CD8 DEFICIENCY, FAMILIAL, SMITH-KINGSMORE SYNDROME, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, C2 DEFICIENCY, C3 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, COMPLEMENT FACTOR I DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 14, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, {HASHIMOTO THYROIDITIS}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], ?IMMUNODEFICIENCY 22, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 46, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NETHERTON SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HYPERTHYROIDISM, NONAUTOIMMUNE, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FASLG, TNFRSF13B, GH1, IL7R, IL2RA, ICOS, CIITA, EGFR, IL4R, SPINK5, FAS, CD8A, CD79A, CD40, RFXANK, ATM, CR2, STAT1, IRF7, KRAS, IKBKG, RORC, HLA-DRB1, NFKB1, CD46, TNFAIP3, CD247, LEP, FOXP3, PIK3CD, MTOR, BCL10, NGF, TRAC, CXCR4, B2M, PTPRC, NFKBIL1, C2, CFI, WAS, IL10, CD40LG, IKBKB, C3, CTLA4, CD19, TMEM173, HLA-C, IL12B, TSHR, ADA, SERPING1, ZAP70, CREBBP, PTPN22, JAK3, STAT3, TFRC, TYK2, INS, TLR2, NFKB2, PIK3R1, IRF3

{HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, COMPLEMENT FACTOR I DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, C3 DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

SERPING1, CD46, C3, NGF, CFI

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {HASHIMOTO THYROIDITIS}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, SPLENIC HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, ?IMMUNODEFICIENCY 16, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, C2 DEFICIENCY, MUCKLE-WELLS SYNDROME, ADAMS-OLIVER SYNDROME 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYELOPEROXIDASE DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, IMMUNODEFICIENCY 14, {PSORIASIS SUSCEPTIBILITY 1}, GRISCELLI SYNDROME, TYPE 1, TIMOTHY SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, COMPLEMENT FACTOR H DEFICIENCY, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OGDEN SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, LEUKOCYTE ADHESION DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ?CANDIDIASIS, FAMILIAL, 8, LYMPHOPROLIFERATIVE SYNDROME 2, GRISCELLI SYNDROME, TYPE 2, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME

LCK, FASLG, IRF8, ZAP70, NGF, NFKB2, PRKCD, COPA, CASP8, EGFR, NKX2-5, IL4R, PRF1, JAGN1, FAS, IFNAR2, IKBKG, TRAF3IP2, RFXANK, CXCR4, CD40LG, IRF7, KRAS, THBD, NLRC4, CIITA, HAX1, HLA-DRB1, NFKB1, WAS, IRF3, CACNA1C, CFH, LEP, NFKBIL1, FOXP3, RAB27A, PIK3CD, MTOR, ITGB2, TNFRSF4, FADD, BTK, CD27, ELANE, MYO5A, PRKDC, ATM, B2M, CREBBP, PTPRC, C2, IL10, HTR1A, NFKBIA, STAT1, STX11, GLIS3, GATA2, BCL10, CTLA4, TLR2, MPO, TMEM173, HLA-C, IL12B, HNF1A, AP3B1, TSHR, NLRP3, SELP, ITK, FERMT3, CD40, STAT3, NAA10, TFRC, TYK2, RBCK1, INS, RBPJ, IKBKB, IGKC, PIK3R1

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {PSORIASIS SUSCEPTIBILITY 1}, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GRISCELLI SYNDROME, TYPE 1, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY 43, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, RHEUMATOID ARTHRITIS, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, IMMUNODEFICIENCY 36, HERMANSKY-PUDLAK SYNDROME 2, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

NCF1, CYBA, CD3D, PRKCD, B2M, CIITA, STAT1, AP3B1, BUB1B, MYO5A, HLA-DRB1, CD3E, CYBB, TRAC, IL10, PSMB8, HLA-C, IRF8, NCF2, NCF4, HLA-DQB1, SELP, WAS, HLA-DQA1, INS, PIK3R1

HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BARTH SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SICKLE CELL ANEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, IMMUNODEFICIENCY 43, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, OROTIC ACIDURIA, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, ATAXIA-TELANGIECTASIA, MEVALONIC ACIDURIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, SPLENIC HYPOPLASIA, C3 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, {PSORIASIS SUSCEPTIBILITY 1}, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, NIEMANN-PICK DISEASE, TYPE A, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 33, WHIM SYNDROME, HYPER-IGD SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MYOTONIC DYSTROPHY 2, BERGER DISEASE, INTRINSIC FACTOR DEFICIENCY, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, PEELING SKIN SYNDROME 1, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA 3, WISKOTT-ALDRICH SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 46, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME

HBB, CNBP, CIITA, KCNJ11, MYO5A, SMPD1, CFD, IL4R, RANBP2, NCF4, TFRC, HELLS, CPT2, CREBBP, UMPS, RBPJ, KRAS, COPA, CASP8, NKX2-5, CD40, PLA2G7, LYST, CD79A, IKBKG, CORO1A, LEP, PIK3CD, MSMO1, GFPT1, IL10, STAT1, NCF2, SLC35C1, C3, CD81, TMEM173, TSHR, SLC22A4, STAT3, INS, CUBN, IGKC, PIGR, FASLG, NCF1, GLB1, DKC1, SLC35A2, SMAD9, MVK, CD40LG, TAZ, RORC, ITGB2, CYBB, TPI1, PRKDC, HLA-C, RPSA, CDSN, ISG15, HAX1, STAT2, ELANE, TLR2, LCK, JAGN1, GIF, NGF, PRKCD, B2M, BAAT, SERAC1, PTRF, PEPD, ATM, IL12B, NFKB1, WAS, CACNA1C, CD19, BLM, CXCR4, FCGR2B, PLCG2, RPL11, PDGFRA, CHAT, EGFR, SELP, CD46, ALG13, MTOR, PIK3R1

SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, CD8 DEFICIENCY, FAMILIAL, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY 43, ATELEIOTIC DWARFISM, RUBINSTEIN-TAYBI SYNDROME, OMENN SYNDROME, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 42, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

PRKDC, B2M, ADAM17, RAG2, XRCC4, TFRC, CREBBP, CD8A, RAG1, FADD, RORC

{ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ADAMS-OLIVER SYNDROME 3, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, ?CANDIDIASIS, FAMILIAL, 8, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 21, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MUCKLE-WELLS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY 15

CD40LG, B2M, NLRC4, TRAF3IP2, BUB1B, IL12B, NGF, COPA, CASP8, IKBKB, NLRP3, IL10, LYST, GATA2, STAT3, RBPJ, PNP, CD40, MS4A2

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 25, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {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 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, BLOOM SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 42, C3 DEFICIENCY, IMMUNODEFICIENCY 15, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CD8 DEFICIENCY, FAMILIAL, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 30, IMMUNODEFICIENCY 14, C2 DEFICIENCY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 8, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, {HASHIMOTO THYROIDITIS}, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 46, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, COMMON VARIABLE IMMUNODEFICIENCY 1, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 43, ?IMMUNODEFICIENCY 22, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1

LCK, FASLG, CORO1A, IRF8, KRAS, IL2RA, ICOS, CASP8, STX11, IL10, CD8A, IKBKG, IL12RB1, ATM, STAT1, IRF7, CARD11, TNFRSF13C, IL12B, IL21, HLA-DRB1, CD46, CD3E, FOXP3, PIK3CD, FADD, BLM, B2M, CREBBP, C2, CD247, PRKCD, PNP, CD40LG, VPS33B, TBX21, IGKC, C3, CTLA4, EGFR, SELP, ZAP70, IKBKB, CD40, STAT3, TFRC, PTPRC, INS, RORC, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, AGAMMAGLOBULINEMIA 6, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, 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}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, C3 DEFICIENCY, DIGEORGE SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, WHIM SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ?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, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, VELOCARDIOFACIAL SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], ADAMS-OLIVER SYNDROME 3, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, RHEUMATOID ARTHRITIS, ?CANDIDIASIS, FAMILIAL, 8, LYMPHOPROLIFERATIVE SYNDROME 2, LEUKOCYTE ADHESION DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 35, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, 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, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 10, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, SMITH-KINGSMORE SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, FASLG, NCF1, STIM1, CYBA, CYBB, IL10, CASP8, C2, CD46, CREBBP, TRAF3IP2, NTRK1, FERMT3, INSR, ATM, CD40LG, CARD11, IKBKG, IGKC, NFKB1, STAT3, LEP, FOXP3, MTOR, ITGB2, BCL10, BTK, NGF, ELANE, PRKDC, CXCR4, COPA, PTPRC, TBX1, CARD9, WAS, CD27, STAT1, PDGFRA, IKBKB, C3, CD81, EGFR, KRAS, SELP, GH1, TLR2, CD40, CD79B, MALT1, TYK2, INS, RBPJ, IRF7, PIK3R1

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

DDX41, IFIH1, TREX1, NGF, CNBP, CREBBP, IRF5, IKBKG, ATM, IRF7, NFKB1, IRF3, PRKDC, IL10, NFKBIA, IKBKB, TLR2, TMEM173, EGFR, ERCC2, CD40, RBPJ, NFKB2

IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, TENORIO SYNDROME, MUCKLE-WELLS SYNDROME, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

STAT1, ISG15, NLRC4, IRF3, IKBKB, TNFAIP3, NLRP3, IFIH1, RNF125, IKBKG

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

HLA-C, HLA-DRB1, B2M

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, {PSORIASIS SUSCEPTIBILITY 1}, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, GM1-GANGLIOSIDOSIS, TYPE I, LEPRECHAUNISM, IMMUNODEFICIENCY 42, BARTH SYNDROME, IMMUNODEFICIENCY 15, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, IMMUNODEFICIENCY 38, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, DYSKERATOSIS CONGENITA, X-LINKED, RHEUMATOID ARTHRITIS, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY 23, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {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, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPERTHYROIDISM, NONAUTOIMMUNE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, SMITH-KINGSMORE SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

FASLG, NCF1, GLB1, DKC1, SLC35A2, PRKCD, CASP8, OAS1, ISG15, RORC, CIITA, KCNJ11, TAZ, LEP, PMM2, GCK, NFKB1, CFD, SPATA5, IRF3, INSR, COG6, MTOR, ITGB2, POLE, BTK, GFPT1, KRAS, TPI1, B2M, G6PC3, MAN2B1, NFKBIA, EGFR, PGM3, IKBKB, ADAM17, SLC35C1, RBPJ, NCF4, HLA-C, HAX1, HNF1A, TSHR, CUBN, SELP, CREBBP, STAT3, ELANE, SKIV2L, INS, CD81, ALG13, CORO1A, PIGR

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?CHARGE SYNDROME, CHARGE SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AGAMMAGLOBULINEMIA, X-LINKED 1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, ADAMS-OLIVER SYNDROME 3, SPLENIC HYPOPLASIA, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CD8 DEFICIENCY, FAMILIAL, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 44, IMMUNODEFICIENCY 19, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ?IMMUNODEFICIENCY 45, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, BERGER DISEASE, IMMUNODEFICIENCY, COMMON VARIABLE, 13, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, 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, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, C1Q DEFICIENCY, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY 42, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, BRANCHIOOCULOFACIAL SYNDROME, C1R/C1S DEFICIENCY, COMBINED, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SMITH-KINGSMORE SYNDROME

LCK, FASLG, PRF1, RPSA, IRF5, CHD7, XRCC4, IL7R, C1QA, PRKCD, IKZF1, CASP8, HLA-C, TFAP2A, CD40, RAG1, IFNAR2, CD79A, CD8A, CXCR4, CD40LG, IRF7, DCLRE1C, ITK, LEP, ICOS, IL12B, IGKC, NFKB1, CR2, PIGR, CD19, FOXP3, PIK3CD, MTOR, FADD, BTK, KRAS, BLM, PRKDC, ATM, B2M, CREBBP, PLCG2, PTPRC, IL10, RPL11, NFKBIA, GFI1, STAT1, AICDA, C1R, TBX21, BLNK, ADAM17, GATA2, C3, RBPJ, NCF4, MALT1, EGFR, TSHR, ADA, NTRK1, CD3D, ZAP70, RAG2, PTPN22, JAK3, CIITA, STAT3, STAT2, TFRC, TYK2, INS, CD81, IKBKB, RORC, PIK3R1

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, C2 DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MUCKLE-WELLS SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, {LEPROSY, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

IL4R, EGFR, JAGN1, CIITA, HLA-DRB1, NLRC4, IKBKG, HAX1, FADD, B2M, C2, IL10, STAT1, IKBKB, TMEM173, FASLG, SELP, CD40, NLRP3, INS, TLR2, IRF3

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, ATAXIA-TELANGIECTASIA, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, 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 15, IMMUNODEFICIENCY 33, LEUKOCYTE ADHESION DEFICIENCY, ?IMMUNODEFICIENCY 16, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, C2 DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MUCKLE-WELLS SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, GRISCELLI SYNDROME, TYPE 2, {LEPROSY, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

IL4R, JAGN1, FERMT3, CIITA, ATM, HLA-DRB1, NLRC4, IKBKG, HAX1, STAT1, STAT3, IRF3, ITGB2, TNFRSF4, FADD, B2M, C2, IL10, EGFR, STX11, TMEM173, FASLG, RAB27A, SELP, ITK, IKBKB, CD40, NLRP3, INS, TLR2, IGKC

IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, 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, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CANDIDIASIS, FAMILIAL, 9, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {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, [BLOOD GROUP, DUFFY SYSTEM], SPLENIC HYPOPLASIA, 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, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 16, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, C2 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, {PSORIASIS SUSCEPTIBILITY 1}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, WISKOTT-ALDRICH SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, IMMUNODEFICIENCY 30, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 8, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, LEPRECHAUNISM, IMMUNODEFICIENCY 42, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, C3 DEFICIENCY, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, ?CANDIDIASIS, FAMILIAL, 8, LYMPHOPROLIFERATIVE SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, IMMUNODEFICIENCY 46, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

CYBA, TREX1, FAS, CD8A, IKBKG, IRF7, MC2R, IL4R, RANBP2, IL21R, TFRC, GATA2, PRF1, CD40, HLA-DQA1, IL2RG, RBPJ, KRAS, NKX2-5, CREBBP, IRF5, IFNAR2, IL12B, CIITA, CORO1A, CD3E, LEP, NFKBIA, IL10, PSMB8, C2, CD27, HLA-DRB1, IRF8, C3, TMEM173, TNFRSF4, TSHR, STAT3, TYK2, INS, IFNGR1, IGKC, FASLG, KCNJ11, IL7R, IL2RA, OAS1, SMAD9, IL12RB1, C1R, CD40LG, RORC, FOXP3, NGF, TRAC, ACKR1, EGFR, TBX21, IL21, HAX1, GH1, THBD, STAT2, TLR2, LCK, DDX41, ISG15, IFNGR2, CYBB, PRKCD, B2M, IL17RA, BCL10, TRAF3IP2, IL17RC, CXCR4, JAK3, IRF3, STAT1, NFKB1, WAS, INSR, FADD, HLA-DQB1, STX11, HLA-C, DNMT3B, SELP, ZAP70, IKBKB, MTOR, PIK3R1

IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?IMMUNODEFICIENCY 39, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, C3 DEFICIENCY, ?IMMUNODEFICIENCY 22, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, C2 DEFICIENCY, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, ADAMS-OLIVER SYNDROME 3, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, {PSORIASIS SUSCEPTIBILITY 1}, ?IMMUNODEFICIENCY 25, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, LEUKOCYTE ADHESION DEFICIENCY, PEELING SKIN SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 46, TENORIO SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, SMITH-KINGSMORE SYNDROME

LCK, FASLG, NCF1, ISG15, DKC1, CDSN, IL2RA, IL10, CIITA, EGFR, SELP, CREBBP, IFIH1, FAS, IFNAR2, CD79A, RFXANK, ATM, CR2, CD40LG, IRF7, NGF, NLRC4, IKBKG, HAX1, STAT1, NFKB1, INSR, CD3E, IRF3, THBD, LEP, FOXP3, HLA-DRB1, ITGB2, CYBB, ELANE, PRKDC, CXCR4, IL4R, B2M, NFKBIL1, C2, CD247, WAS, CD27, RPL11, ACP5, MBL2, STX11, TNFAIP3, PDGFRA, ADAM17, GATA2, C3, PRKCD, CUBN, IRF5, MPO, HLA-C, IL12B, HNF1A, RNF125, TSHR, TLR2, NLRP3, SERPING1, IL21, ZAP70, IKBKB, CD40, JAK3, ADA, STAT3, STAT2, TFRC, TYK2, INS, RBPJ, MTOR, PIK3R1

IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 15, LEUKOCYTE ADHESION DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, COMMON VARIABLE, 4, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 14, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 2, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, OMENN SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 8, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED

CD40LG, RAG1, FOXN1, CORO1A, TNFRSF13C, TNFAIP3, TNFRSF13B, JAK3, IKBKB, FOXP3, PIK3CD, ITGB2, STAT3, FADD, IKBKG

IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 30, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 43, ?IMMUNODEFICIENCY 39, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, 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}, IMMUNODEFICIENCY 35, RUBINSTEIN-TAYBI SYNDROME, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

IRF5, IFNGR2, PRKCD, IL10, EGFR, OAS1, CREBBP, ISG15, CIITA, IL12RB1, STAT1, BCL10, IRF7, HLA-DRB1, IRF3, B2M, HLA-DQA1, HLA-C, IRF8, HLA-DQB1, IL12B, CD40, TYK2, INS, IFNGR1, IGKC

AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 38, C2 DEFICIENCY, C3 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 43, ?IMMUNODEFICIENCY 39, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MUCKLE-WELLS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, MYELOPEROXIDASE DEFICIENCY, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], 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, TENORIO SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, SMITH-KINGSMORE SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

LCK, FASLG, ISG15, KRAS, PRKCD, IL10, CIITA, EGFR, CREBBP, IFIH1, FAS, IKBKG, RFXANK, ATM, CR2, CD40LG, IRF7, STAT1, NLRC4, IL12B, IRF3, HLA-DRB1, NFKB1, STAT3, TNFAIP3, LEP, FOXP3, MTOR, PRKDC, B2M, C2, WAS, ACP5, IKBKB, ADAM17, C3, MPO, IRF5, HLA-C, RNF125, SELP, CD40, JAK3, NLRP3, NFKBIL1, INS, TLR2, IL21

IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT

IKBKB, STAT1, HLA-DRB1

ATAXIA-TELANGIECTASIA, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY, COMMON VARIABLE, 2, {HASHIMOTO THYROIDITIS}, RHEUMATOID ARTHRITIS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED

ATM, ICOS, IL10, FOXP3, INS, TNFRSF13B, CTLA4

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, 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, ?IMMUNODEFICIENCY 16, COMMON VARIABLE IMMUNODEFICIENCY 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY, COMMON VARIABLE, 4, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, {HASHIMOTO THYROIDITIS}, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, KAPPA LIGHT CHAIN DEFICIENCY, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11

LCK, NRAS, TNFRSF13C, ICOS, CD79A, ATM, IL21, FOXP3, CXCR4, IL10, CARD11, CD247, TNFRSF4, STX11, CTLA4, TLR2, FASLG, ADA, CD40, STAT3, PTPRC, INS, TNFRSF13B, IGKC, PIK3R1

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?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, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {HASHIMOTO THYROIDITIS}, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AGAMMAGLOBULINEMIA, X-LINKED 1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 43, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SPLENIC HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, RUBINSTEIN-TAYBI SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, VELOCARDIOFACIAL SYNDROME, FILS SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, ?IMMUNODEFICIENCY 13, HERMANSKY-PUDLAK SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, GRISCELLI SYNDROME, TYPE 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, DIGEORGE SYNDROME, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 8, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, WISKOTT-ALDRICH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, LEUKOCYTE ADHESION DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, GRISCELLI SYNDROME, TYPE 2, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, IMMUNODEFICIENCY 46, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, C4A DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SMITH-KINGSMORE SYNDROME

LCK, FASLG, JAGN1, CORO1A, DKC1, NGF, HTR1A, PIK3R1, CIITA, NKX2-5, IRF5, ISG15, FAS, WAS, IFNAR2, IL12B, GFI1, MYO5A, ATM, CD40LG, IRF7, AP3B1, BUB1B, IKBKG, SKIV2L, STAT1, LEP, INSR, FOXP3, RAB27A, PIK3CD, MTOR, ITGB2, BCL10, BTK, KRAS, TLR2, POLE, PRKDC, CXCR4, B2M, CREBBP, PTPRC, CARD11, IL2RA, C4A, EGFR, AICDA, IKBKB, CASP8, NCF2, PRKCD, UNC119, CHAT, SMAD9, CTLA4, HLA-DRB1, MCM4, HLA-C, HNF1A, DNMT3B, TSHR, ADA, XRCC4, IRF8, CD40, STAT3, TFRC, TBX1, INS, RBPJ, GATA2, MALT1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, 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 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, IL10, NFKBIA, NFKB1, STAT1, CD40, IKBKB, CASP8, INS, TLR2, BTK, IKBKG, NFKB2, ELANE

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, {PSORIASIS SUSCEPTIBILITY 1}, HELSMOORTEL-VAN DER AA SYNDROME, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, WHIM SYNDROME, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, C3 DEFICIENCY, ?IMMUNODEFICIENCY 39, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ADAMS-OLIVER SYNDROME 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, COMPLEMENT FACTOR I DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, IMMUNODEFICIENCY 36, C4A DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

LCK, FASLG, C3AR1, NGF, PRKCD, IL4R, CASP8, IL10, FERMT3, BCL10, CXCR4, STAT1, IRF7, NFKB1, STAT3, SPATA5, TNFAIP3, INSR, FADD, TPI1, B2M, CFI, WAS, NFKBIA, C4A, HLA-C, STX11, ADAM17, C3, EGFR, ADNP, CD40, CD46, INS, RBPJ, PIK3R1

IMMUNODEFICIENCY 14, {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 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, WHIM SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, AGAMMAGLOBULINEMIA 3, BERGER DISEASE, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {HASHIMOTO THYROIDITIS}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, SMITH-KINGSMORE SYNDROME

LCK, NRAS, KRAS, PRKCD, FAS, CD79A, CXCR4, CD40LG, BCL10, HAX1, LEP, CD3E, INSR, PIK3CD, CD3D, IL4R, STAT1, PDGFRA, IGKC, ADAM17, CTLA4, CD19, EGFR, ITPR3, CD40, PIK3R1, INS, CD81, MTOR, PIGR

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, 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 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, IL10, NFKBIA, NFKB1, STAT1, CD40, IKBKB, CASP8, INS, TLR2, BTK, IKBKG, NFKB2, ELANE

EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?CHARGE SYNDROME, CHARGE SYNDROME, ?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, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SICKLE CELL ANEMIA, 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, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, OROTIC ACIDURIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SPLENIC HYPOPLASIA, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 44, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, IMMUNODEFICIENCY 33, 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, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, NIEMANN-PICK DISEASE, TYPE A, TIMOTHY SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 45, MYASTHENIC SYNDROME, CONGENITAL, 5, WHIM SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, IMMUNODEFICIENCY, COMMON VARIABLE, 13, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}, COMPLEMENT FACTOR H DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AGAMMAGLOBULINEMIA 6, C1Q DEFICIENCY, BLOOM SYNDROME, IMMUNODEFICIENCY 42, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, PEELING SKIN SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, BRANCHIOOCULOFACIAL SYNDROME, CILIARY DYSKINESIA, PRIMARY, 6, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, LYMPHOPROLIFERATIVE SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, IMMUNODEFICIENCY 46, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME

CYBA, HBB, FAS, CIITA, IRF7, GCK, COLQ, DSG1, CDSN, BTK, IL4R, RANBP2, TFRC, NCF4, PRF1, CREBBP, CD79B, RBPJ, CHD7, KRAS, HTR1A, CASP8, NKX2-5, CD40, IRF5, IFNAR2, IL12B, BUB1B, IKBKG, MTOR, UMPS, LEP, PIK3CD, NFKBIA, IL10, CARD9, CD27, STAT1, IRF8, NCF2, TMEM173, TSHR, STAT3, TYK2, INS, ABCC8, RORC, MALT1, FASLG, NCF1, KCNJ11, SMPD1, IL2RA, SMAD9, C1R, CD40LG, NFKB2, CFH, FOXP3, C1QA, CYBB, ELANE, B2M, C1QB, EGFR, TBX21, IGKC, GFI1, HAX1, HNF1A, GH1, TFAP2A, PAX4, THBD, STAT2, TLR2, LCK, NRAS, ISG15, NGF, PRKCD, IKZF1, NTRK1, CXCR4, BCL10, IRF3, NFKB1, SPATA5, CACNA1C, INSR, NME8, BLM, PDGFRA, ADAM17, HLA-C, DNMT3B, ADA, SELP, CR2, GATA2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, HELSMOORTEL-VAN DER AA SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, LEPRECHAUNISM, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BRANCHIOOCULOFACIAL SYNDROME, IMMUNODEFICIENCY 38, ATELEIOTIC DWARFISM, ADAMS-OLIVER SYNDROME 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, RHEUMATOID ARTHRITIS, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

NRAS, IRF5, KRAS, CASP8, TFAP2A, PRF1, ISG15, FAS, FERMT3, NTRK1, WAS, INSR, NGF, PRKDC, NFKBIA, FASLG, EGFR, ADNP, SELP, XRCC4, CREBBP, CD40, STAT3, TYK2, INS, RBPJ, PIK3R1

IMMUNODEFICIENCY 11, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, {HASHIMOTO THYROIDITIS}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ?IMMUNODEFICIENCY 22, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, ?IMMUNODEFICIENCY 37, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED

LCK, CARD11, CARD9, CTLA4, CD40, FOXP3, CD3E, IL17RA, BCL10, PIK3R1

{ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, COMMON VARIABLE, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {HASHIMOTO THYROIDITIS}, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 43, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, KAPPA LIGHT CHAIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED

B2M, CTLA4, IL21, IL21R, TNFRSF13C, STAT3, FOXP3, IL12B, IGKC

ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, 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, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 30, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, RUBINSTEIN-TAYBI SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, LYMPHOPROLIFERATIVE SYNDROME 2, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, {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, HERMANSKY-PUDLAK SYNDROME 2, ?IMMUNODEFICIENCY 22, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY, COMMON VARIABLE, 13

LCK, FASLG, IL7R, IL2RA, IL4R, CREBBP, FAS, IL12B, IL12RB1, ATM, HLA-DRB1, IKZF1, AP3B1, BCL10, IL21, STAT3, FOXP3, BTK, B2M, PTPRC, IL10, CD27, CD40LG, TBX21, C3, PNP, EGFR, ADA, NHP2, ZAP70, CD40, CD46, TYK2, TLR2