Defects of intrinsic and innate immunity (Version 2.0)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 86 Entitiess
Green Green List (high evidence)	CARD9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Candidiasis, familial, 2, autosomal recessive, MIM# 212050 Predisposition to invasive fungal disease, MONDO:0008905 Tags
Green Green List (high evidence)	CIB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Epidermodysplasia verruciformis 3 618267 HPV infections and cancer of the skin Tags
Green Green List (high evidence)	CLCN7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Osteopetrosis, autosomal recessive 4 MIM#611490 Tags
Green Green List (high evidence)	CXCR4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations WHIM syndrome 1, MIM# 193670 Tags
Green Green List (high evidence)	CYBB	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Chronic granulomatous disease, X-linked, MIM# 306400 Tags
Green Green List (high evidence)	DBR1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0030334 Tags
Green Green List (high evidence)	HMOX1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Heme oxygenase-1 deficiency, MIM# 614034 Asplenia Tags
Green Green List (high evidence)	IFIH1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Immunodeficiency 95 MIM#619773 Tags
Green Green List (high evidence)	IFNAR1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations immunodeficiency 106, susceptibility to viral infections MONDO:0030970 Tags
Green Green List (high evidence)	IFNAR2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations immunodeficiency 45 MONDO:0014727 Tags
Green Green List (high evidence)	IFNGR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950 Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978 Tags
Green Green List (high evidence)	IFNGR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 28, mycobacteriosis, MIM# 614889 Tags
Green Green List (high evidence)	IL12B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 29, mycobacteriosis, MIM# 614890 Tags
Green Green List (high evidence)	IL12RB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 30, MIM# 614891 Tags
Green Green List (high evidence)	IL17RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 51, MIM# 613953 MONDO:0013500 Tags
Green Green List (high evidence)	IL17RC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Candidiasis, familial, 9, MIM# 616445 MONDO:0014642 Tags
Green Green List (high evidence)	IL23R	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Immunodeficiency disease, MONDO:0021094 Susceptibility to mycobacteria and Salmonella Tags
Green Green List (high evidence)	IRAK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 67, MIM# 607676 Tags
Green Green List (high evidence)	IRF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Disease associations Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668 Tags
Green Green List (high evidence)	IRF4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Immunodeficiency 131, MIM# 621097 Tags
Green Green List (high evidence)	IRF7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 39, MIM# 616345 Tags
Green Green List (high evidence)	IRF8	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990 Tags
Green Green List (high evidence)	ISG15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 38, MIM# 616126 Tags
Green Green List (high evidence)	LY9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Inborn error of immunity, MONDO:0003778, LY9-related Tags
Green Green List (high evidence)	MCTS1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Literature Disease associations Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related Tags
Green Green List (high evidence)	MYD88	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 68, MIM# 612260 Tags
Green Green List (high evidence)	NBAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Short stature, optic nerve atrophy, and Pelger-Huet anomaly MIM#614800 Infantile liver failure syndrome 2 MIM#616483 Tags
Green Green List (high evidence)	NCSTN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Acne inversa, familial, 1 MIM#142690 Tags
Green Green List (high evidence)	OAS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Disease associations Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM# 621409 Tags
Green Green List (high evidence)	OSTM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Osteopetrosis, autosomal recessive 5 MIM#259720 Tags
Green Green List (high evidence)	PLEKHM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Osteopetrosis, autosomal recessive 6 MIM#611497 Tags
Green Green List (high evidence)	PSEN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations ?Acne inversa, familial, 3 MIM#613737 Tags
Green Green List (high evidence)	PSENEN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736 Tags
Green Green List (high evidence)	RANBP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033 Tags
Green Green List (high evidence)	RORC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 42, MIM# 616622 Tags
Green Green List (high evidence)	RPSA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Asplenia, isolated congenital, MIM# 271400 Tags
Green Green List (high evidence)	SNORA31	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations encephalitis, acute, infection-induced, susceptibility to MONDO:0800174 Tags non-coding gene
Green Green List (high evidence)	SNX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Osteopetrosis, autosomal recessive 8 MIM#615085 Tags
Green Green List (high evidence)	SPPL2A	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Disease associations Immunodeficiency 86, mycobacteriosis MIM#619549 Tags
Green Green List (high evidence)	STAT1	2 reviews 2 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	STAT2	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TBK1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Hereditary predisposition to infections, MONDO:0015979, TBK1-related Tags
Green Green List (high evidence)	TCIRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Osteopetrosis, autosomal recessive 1 MIM#259700 Tags
Green Green List (high evidence)	TICAM1	2 reviews 2 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TLR3	2 reviews 2 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TLR7	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Immunodeficiency 74, COVID-19-related, X-linked MONDO:0026767 Tags
Green Green List (high evidence)	TLR8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078 Tags
Green Green List (high evidence)	TMC6	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TMC8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Epidermodysplasia verruciformis 2, MIM# 618231 Tags
Green Green List (high evidence)	TNFRSF11A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Osteopetrosis, autosomal recessive 7 MIM#612301 Tags
Green Green List (high evidence)	TNFSF11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Osteopetrosis, autosomal recessive 2 MIM#259710 Tags
Green Green List (high evidence)	TRAF3IP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Candidiasis, familial, 8, MIM# 615527 Tags
Green Green List (high evidence)	TYK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 35, MIM# 611521 Tags
Green Green List (high evidence)	ZNFX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Disease associations immunodeficiency 91 and hyperinflammation MONDO:0030491 Tags
Amber Amber List (moderate evidence)	FCGR3A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 20, MIM# 615707 Tags
Amber Amber List (moderate evidence)	GCC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Inborn error of immunity, MONDO:0003778, GCC2-related Tags
Amber Amber List (moderate evidence)	IFNG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations inherited susceptibility to mycobacterial diseases MONDO:0019146 Tags
Amber Amber List (moderate evidence)	IKBKE	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Literature Disease associations Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related Tags
Amber Amber List (moderate evidence)	IL18BP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations {Hepatitis, fulminant viral, susceptibility to} 618549 Tags
Amber Amber List (moderate evidence)	IRF3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations encephalitis, acute, infection-induced, susceptibility to MONDO:0800174 Tags
Amber Amber List (moderate evidence)	IRF9	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations immunodeficiency 65, susceptibility to viral infections MONDO:0032848 Tags
Amber Amber List (moderate evidence)	JAK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Susceptibility to mycobacteria and viruses Viral infections Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999 Tags
Amber Amber List (moderate evidence)	MAPK8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Literature Disease associations Chronic mucocutaneous candidiasis Connective tissue disorders Tags
Amber Amber List (moderate evidence)	POLR3A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations varicella zoster infection MONDO:0005608 Tags
Amber Amber List (moderate evidence)	POLR3C	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations varicella zoster infection MONDO:0005608 Tags
Amber Amber List (moderate evidence)	RIPK3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Disease associations Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related Tags
Amber Amber List (moderate evidence)	RNASEL	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Disease associations Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related Tags
Amber Amber List (moderate evidence)	TBX21	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Immunodeficiency 88, MIM# 619630 Susceptibility to mycobacterial disease Tags
Amber Amber List (moderate evidence)	UNC93B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 Tags
Red Red List (low evidence)	APOL1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551 Tags
Red Red List (low evidence)	ATG4A	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Red Disease associations infectious meningitis MONDO:0004796 Tags
Red Red List (low evidence)	CASP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Inborn error of immunity, MONDO:0003778, CASP1-related Absent IL18 and lymphopenia but no clinical disease Tags
Red Red List (low evidence)	CASP4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Hereditary susceptibility to infection, MONDO:0015979, CASP4-related Susceptibility to meliodiosis Tags
Red Red List (low evidence)	GTF3A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations herpes simplex encephalitis MONDO:0012521 Tags
Red Red List (low evidence)	IL12RB2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Immunodeficiency disease MONDO:0021094, IL12RB1-related Susceptibility to mycobacteria and Salmonella Tags
Red Red List (low evidence)	IL17F	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Candidiasis, familial, 6, autosomal dominant, MIM# 613956 Tags
Red Red List (low evidence)	IRAK1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Disease associations Susceptibility to bacterial infections Tags SV/CNV
Red Red List (low evidence)	IRAK2	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Immune dysregulation, MONDO:0957790, IRAK2-related Tags
Red Red List (low evidence)	LY96	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Inborn error of immunity, MONDO:0003778, LY96-related Tags
Red Red List (low evidence)	MAP1LC3B2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Disease associations Hereditary susceptibility to infection, MONDO:0015979, MAP1LC3B2 -related Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2 Tags
Red Red List (low evidence)	NOS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations inborn error of immunity MONDO:0003778 Tags
Red Red List (low evidence)	OAS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Multisystem inflammatory syndrome in children and adults MONDO:0035375 Tags
Red Red List (low evidence)	POLR3F	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872 Tags
Red Red List (low evidence)	TIRAP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Staphylococcal disease during childhood Tags
Red Red List (low evidence)	TLR4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Inflammatory bowel disease MONDO:0005265 Tags
Red Red List (low evidence)	TRAF3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849 Tags

Defects of intrinsic and innate immunity (Version 2.0)

9 reviewers

86 Entities

86 reviewed, 54 green

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