Disorders of immune dysregulation (Version 2.0)

Description

This panel contains genes that cause diseases of immune dysregulation, including:
- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)
- FHL Syndromes with Hypopigmentation
- Regulatory T Cell Defects
- Autoimmunity with or without Lymphoproliferation
- Immune Dysregulation with Colitis
- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)
- Susceptibility to EBV and Lymphoproliferative Conditions

Updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.

This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).

Panel Activity

26 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Natasha Brown (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Samantha Ayres (Victorian Clinical Genetics Services)
Danielle Ariti (University of Melbourne)
Ain Roesley (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Michelle Torres (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Chern Lim (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Santosh Varughese (University of Melbourne)
Belinda Chong (Victorian Clinical Genetics Services)
Krithika Murali (Pathology Queensland)
Sarah Milton (Victorian Clinical Genetics Services)
Peter McNaughton (Queensland Children's Hospital)
Zornitza Stark (Victorian Clinical Genetics Services)
chirag patel (Genetic Health Queensland)

118 Entities

119 reviewed, 95 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 118 Entitiess
Green Green List (high evidence)	ACP5	2 reviews 2 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	ADA2	2 reviews 2 green	Unknown	Sources Expert Review Green Literature Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	ADAR	1 review 1 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	AIRE	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 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 Tags
Green Green List (high evidence)	AP3B1	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags clinical trial treatable
Green Green List (high evidence)	AP3D1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Hermansky-Pudlak syndrome 10, MIM# 617050 Oculocutaneous albinism Severe neutropaenia Recurrent infections Seizures Hearing loss Neurodevelopmental delay Tags
Green Green List (high evidence)	ARPC5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Disease associations Immunodeficiency 133 with autoimmunity and autoinflammation MIM#620565 Tags
Green Green List (high evidence)	BACH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Immunodeficiency 60, MIM# 618394 inflammatory bowel disease recurrent sinopulmonary infections Tags
Green Green List (high evidence)	BLOC1S6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Hermansky-Pudlak syndrome 9, MIM# 614171 Tags
Green Green List (high evidence)	CARMIL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Immunodeficiency 58, MIM# 618131 Tags
Green Green List (high evidence)	CASP8	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 Tags founder
Green Green List (high evidence)	CBLB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoimmune disease, multisystem, infantile-onset, 3, MIM# 620430 Tags
Green Green List (high evidence)	CD27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Lymphoproliferative syndrome 2, MIM# 615122 Tags
Green Green List (high evidence)	CD70	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Lymphoproliferative syndrome 3, MIM# 618261 Tags treatable
Green Green List (high evidence)	CERT1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351) Tags new gene name
Green Green List (high evidence)	CTLA4	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 Autoimmune lymphoproliferative syndrome, type V, MIM# 616100 Tags
Green Green List (high evidence)	CTPS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Immunodeficiency 24, MIM# 615897 Recurrent/chronic bacterial and viral infections (EBV, VZV) EBV lymphoproliferation B-cell non-Hodgkin lymphoma Tags
Green Green List (high evidence)	DEF6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 87 and autoimmunity, MONDO:0030457 Tags
Green Green List (high evidence)	DOCK11	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109 Tags
Green Green List (high evidence)	DPP9	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Disease associations hatipoglu immunodeficiency syndrome MONDO:0957229 Tags
Green Green List (high evidence)	ELF4	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Other Disease associations Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074) Tags
Green Green List (high evidence)	FADD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations FADD-related immunodeficiency MONDO:0013408 Tags
Green Green List (high evidence)	FAS	2 reviews 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FASLG	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations autoimmune lymphoproliferative syndrome MONDO:0017979 Tags
Green Green List (high evidence)	FERMT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Kindler syndrome MONDO:0008260 Tags
Green Green List (high evidence)	FOXP3	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags treatable
Green Green List (high evidence)	GATA2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations GATA2 deficiency with susceptibility to MDS/AML (MONDO:0042982) Tags treatable
Green Green List (high evidence)	GIMAP5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations portal hypertension, noncirrhotic, 2 MONDO:0030397 Tags
Green Green List (high evidence)	GIMAP6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoinflammatory syndrome MONDO:0019751, GIMAP6-related Tags
Green Green List (high evidence)	GNAI2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Syndromic disease MONDO:0002254, GNAI2-related Tags
Green Green List (high evidence)	HAVCR2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398 Tags
Green Green List (high evidence)	IFIH1	3 reviews 3 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	IKZF1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Immune dysregulation Tags
Green Green List (high evidence)	IKZF2	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodysregulation with variable immunodeficiency and autoimmunity, MIM# 621233 Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, MIM# 621234 Tags
Green Green List (high evidence)	IL10	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)	IL10RA	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)	IL10RB	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)	IL2RA	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)	IL2RB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495 Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections Tags treatable
Green Green List (high evidence)	IPO8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472 Loeys-Dietz syndrome-like cardiovascular, neurologic, skeletal and immunologic abnormalities Tags
Green Green List (high evidence)	ITCH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245 Tags
Green Green List (high evidence)	ITGAV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with speech delay and behavioural abnormalities, MIM# 621372 Tags
Green Green List (high evidence)	ITK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Lymphoproliferative syndrome 1, MIM# 613011 EBV associated B call lymphoproliferation, lymphoma Tags
Green Green List (high evidence)	JAK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Eosinophilia Eosinophilic enteritis Thyroid disease Poor growth Viral infections Viral infections Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999 Tags
Green Green List (high evidence)	LACC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Disease associations juvenile arthritis due to defect in LACC1 MONDO:0032920 Tags
Green Green List (high evidence)	LIG4	4 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations LIG4 syndrome, MIM# 606593 Immune dysregulation Tags
Green Green List (high evidence)	LRBA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Disease associations Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700 Recurrent infections Inflammatory bowel disease Autoimmunity EBV infections Tags
Green Green List (high evidence)	LYN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Autoinflammatory disease, systemic, with vasculitis, MIM# 620376 Tags
Green Green List (high evidence)	LYST	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags treatable
Green Green List (high evidence)	MAGT1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853 Tags
Green Green List (high evidence)	MAP4K1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Inborn error of immunity, MONDO:0003778, MAP4K1-related Tags
Green Green List (high evidence)	NBAS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541 Tags
Green Green List (high evidence)	NBEAL2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Gray platelet syndrome, MIM# 139090 Immune dysregulation Tags
Green Green List (high evidence)	NCKAP1L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency Immune dysregulation Immunodeficiency 72 with autoinflammation, MIM# 618982 Tags
Green Green List (high evidence)	NLRP1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoinflammation with arthritis and dyskeratosis, MIM# 617388 Tags
Green Green List (high evidence)	PEPD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Disease associations Prolidase deficiency, MIM#170100 Tags
Green Green List (high evidence)	PIK3CD	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 14B, autosomal recessive, MIM# 619281 Immunodeficiency 14A, autosomal dominant, MIM# 615513 Tags
Green Green List (high evidence)	PIK3R1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Immunodeficiency 36 MIM#616005 Tags
Green Green List (high evidence)	PLCG1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Disease associations Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514 Tags
Green Green List (high evidence)	POMP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Combined immunodeficiency Autoinflammation Tags
Green Green List (high evidence)	PRF1	2 reviews 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PRKCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoimmune lymphoproliferative syndrome, type III, MIM# 615559 CVID 9 Tags
Green Green List (high evidence)	PTPN2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Autoinflammatory syndrome of childhood, MONDO:0957018, PTPN2-related Tags
Green Green List (high evidence)	RAB27A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Griscelli syndrome, type 2, MIM# 607624 Tags
Green Green List (high evidence)	RASGRP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Immunodeficiency 64, MIM#618534 Tags
Green Green List (high evidence)	RHBDF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Pneumonia Colitis Immunodeficiency Tags
Green Green List (high evidence)	RIPK1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 57, MIM#618108 Tags
Green Green List (high evidence)	RNASEH2A	2 reviews 2 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	RNASEH2B	1 review 1 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	RNASEH2C	2 reviews 2 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	RNU6ATAC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mendez-Johnson immunoneurologic syndrome, MIM# 621585 Tags non-coding gene
Green Green List (high evidence)	SAMHD1	2 reviews 2 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SASH3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Immunodeficiency 102, MIM# 301082 Tags
Green Green List (high evidence)	SH2B3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Predisposition to haematological malignancies Myeloproliferation and multi-organ autoimmunity juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related Tags
Green Green List (high evidence)	SH2D1A	2 reviews 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SLC7A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Lysinuric protein intolerance, MIM# 222700 Hyper-inflammatory response of macrophages Normal NK cell function Lysinuric protein intolerance Bleeding tendency Alverolar proteinosis Tags
Green Green List (high evidence)	SOCS1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375 Early-onset autoimmunity Tags
Green Green List (high evidence)	STAT3	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 Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952 Lymphoproliferation solid organ autoimmunity recurrent infections short stature eczema delayed puberty dental abnormalities autoimmune interstitial lung disease juvenile-onset arthritis primary hypothyroidism Tags
Green Green List (high evidence)	STAT6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532 Tags
Green Green List (high evidence)	STING1	1 review 1 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	STX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552 Tags
Green Green List (high evidence)	STXBP2	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)	SYK	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381 Tags
Green Green List (high evidence)	TET2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immune dysregulation Lymphoma Immunodeficiency-75 (IMD75), MIM#619126 Tags
Green Green List (high evidence)	TLR7	1 review 1 green	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 Green Disease associations Systemic lupus erythematosus 17, MIM# 301080 Tags
Green Green List (high evidence)	TNFRSF9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Immunodeficiency 109 with lymphoproliferation, MIM# 620282 EBV lymphoproliferation B-cell lymphoma Chronic active EBV infection Tags
Green Green List (high evidence)	TPP2	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 78 with autoimmunity and developmental delay, MIM# 619220 Tags
Green Green List (high evidence)	TRAF3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Immunodeficiency 132B, MIM# 621096 Tags
Green Green List (high evidence)	TRAF3IP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Candidiasis, familial, 8, MIM# 615527 Tags
Green Green List (high evidence)	TREX1	2 reviews 2 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	UNC13D	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898 Tags treatable
Green Green List (high evidence)	UNC93B1	3 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related Tags
Green Green List (high evidence)	XIAP	1 review 1 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 Lymphoproliferative syndrome, X-linked, 2, MIM# 300635 Tags treatable
Green Green List (high evidence)	ZAP70	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006 Tags
Amber Amber List (moderate evidence)	CASP10	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoimmune lymphoproliferative syndrome, type II MIM#603909 Tags
Amber Amber List (moderate evidence)	CD274	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Autoimmune disease, multisystem, infantile-onset, 5, MIM# 621235 Tags
Amber Amber List (moderate evidence)	DOCK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Genetic hemophagocytic lymphohistiocytosis MONDO:0015541 Tags
Amber Amber List (moderate evidence)	DUOXA1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Disease associations Inborn error of immunity, MONDO:0003778 Tags
Amber Amber List (moderate evidence)	FGL2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Autoinflammatory syndrome, MONDO:0019751, FGL2-related Tags
Amber Amber List (moderate evidence)	GATA3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Immune dysregulation Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255 Tags
Amber Amber List (moderate evidence)	IL27RA	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Disease associations Immunodeficiency 134 (Epstein-Barr virus-specific), MIM# 621405 Tags
Amber Amber List (moderate evidence)	MADD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green Literature Victorian Clinical Genetics Services Disease associations HLH, enteropathy Tags
Amber Amber List (moderate evidence)	NFAT5	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immune deficiency disease, MONDO:0003778, NFAT5-related Recurrent infections Autoimmune enterocolopathy EBV susceptibility HLH Tags
Amber Amber List (moderate evidence)	NFATC2	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Disease associations Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related Tags
Amber Amber List (moderate evidence)	P2RY8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Systemic lupus erythematosus, MONDO:0007915, P2RY8-related Tags
Amber Amber List (moderate evidence)	RHOG	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Genetic HLH, MONDO:0015541, RHOG-related Tags
Amber Amber List (moderate evidence)	TGFB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213 Tags
Amber Amber List (moderate evidence)	TNK2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations late onset infantile epilepsy Mayer-Rokitansky-Küster-Hauser syndrome Tags
Red Red List (low evidence)	AMFR	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Disease associations Inborn error of immunity, MONDO:0003778, AMFR-related Tags
Red Red List (low evidence)	ATG9A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Autophagy-associated immune dysregulation and hyperplasia Tags
Red Red List (low evidence)	CARD10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Immunodeficiency 89 and autoimmunity, MIM# 619632 Tags
Red Red List (low evidence)	ERN1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Immune dysregulation Tags
Red Red List (low evidence)	FAAP24	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related Tags disputed
Red Red List (low evidence)	PACSIN1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations systemic lupus erythematosis vasculitis nephritis Tags
Red Red List (low evidence)	PDCD1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# 621004 Tags
Red Red List (low evidence)	RC3H1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Inborn error of immunity, MONDO:0003778, RC3H1-related Tags
Red Red List (low evidence)	TLR1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Inborn error of immunity, MONDO:0003778, TLR1-related Tags
Red Red List (low evidence)	TNFSF9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Literature Disease associations Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related Tags

Disorders of immune dysregulation (Version 2.0)

26 reviewers

118 Entities

119 reviewed, 95 green

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Disease associations

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1 review

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Disease associations

Tags

4 reviews

Sources

Disease associations

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