Combined Immunodeficiency (Version 1.114)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 167 Entitiess
Green Green List (high evidence)	ADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency due to ADA deficiency, MIM# 102700 MONDO:0007064 Tags
Green Green List (high evidence)	AK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Reticular dysgenesis MIM# 267500 Combined immunodeficiency neutropaenia leukopaenia lymphopaenia agranulocytosis deafness MONDO:0009973 Tags treatable
Green Green List (high evidence)	ARPC1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718 Tags treatable
Green Green List (high evidence)	ARPC5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565 Tags
Green Green List (high evidence)	ATM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Ataxia-telangiectasia MIM# 208900 Progressive T cell decrease, poor T-cell proliferation to mitogens low IgA, IgE and IgG increased IgM monomers antibodies variably decreased Ataxia telangiectasia especially of sclerae pulmonary infections lymphoreticular and other malignancies increased alpha fetoprotein increased radiosensitivity, chromosomal instability and chromosomal translocations Tags
Green Green List (high evidence)	B2M	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 43 MIM# 241600 Sinopulmonary infections Purple-red skin lesions Decreased serum IgG Decreased B cells Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c MONDO:0009434 Tags
Green Green List (high evidence)	BCL10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 37, MIM# 616098 Tags
Green Green List (high evidence)	BCL11B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 49, MIM# 617237 Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092 Tags
Green Green List (high evidence)	BLM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Bloom Syndrome MIM# 210900 Short stature, dysmorphic facies sun-sensitive immunoglobulin deficiency (IgA, IgG, IgM) erythema marrow failure leukaemia lymphoma chromosomal instability predisposition to malignancies Tags
Green Green List (high evidence)	CARD11	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 Phenotypes Immunodeficiency 11A, autosomal recessive, MIM# 615206 Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638 Tags
Green Green List (high evidence)	CCBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510 lymphangiectasia and lymphoedema facial abnormalities dysmorphic features hypoalbuminaemia intellectual disability hypoglobulinaemia Tags
Green Green List (high evidence)	CD27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Lymphoproliferative syndrome 2 CD27-deficiency MIM# 615122 hepatosplenomegaly reduced CD8+ T-cell function lymphadenopathy hepatosplenomegaly fever increased susceptibility to EBV infection aplastic anaemia Tags
Green Green List (high evidence)	CD3G	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 17, CD3 gamma deficient MIM# 615607 immune deficiency autoimmunity failure to thrive recurrent gastrointestinal infections recurrent respiratory infections autoimmune haemolytic anaemia Bronchiolitis obliterans low CD3 complex partial T lymphocytopenia intractable diarrhoea. Tags
Green Green List (high evidence)	CD40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency with hyper-IgM, type 3, MIM# 606843 Tags treatable
Green Green List (high evidence)	CD40LG	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 Phenotypes Immunodeficiency, X-linked, with hyper-IgM MIM# 308230 Severe opportunistic infections (recurrent), idiopathic neutropaenia dysgammaglobulinaemia hepatitis cholangitis cholangiocarcinoma autoimmune blood cytopenias haemolytic anaemia thrombocytopaenia diarrhoea peripheral neuroectodermal tumours Tags treatable
Green Green List (high evidence)	CDCA7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910 Tags
Green Green List (high evidence)	CHD7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes CHARGE syndrome MIM# 214800 Hypogonadotropic hypogonadism 5 with or without anosmia MIM# 612370 Kallmann syndrome hypogonadotropic hypogonadism with or without anosmia (HH) Coloboma of the eye heart anomaly choanal atresia intellectual disability genital and ear anomalies, Deafness Delayed pubertal development CNS malformation Cleft lip SCID-like features lymphopaenia sever T-cell deficiency hypogammaglobulinaemia Tags
Green Green List (high evidence)	CHUK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined immunodeficiency, MONDO:0015131, CHUK-related Tags
Green Green List (high evidence)	CIITA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920 varied ID bronchiolitis pneumonia severe autoimmune cytopaenia CD4 T-cell lymphopaenia hypogammaglobulinemia absence of antigen-induced immune response chronic diarrhoea recurrent respiratory infections recurrent gastroenteritis failure to thrive liver/biliary tract disease Tags
Green Green List (high evidence)	CTPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes 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)	DCLRE1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency, Athabascan type MIM# 602450 Omenn syndrome MIM# 603554 Tags
Green Green List (high evidence)	DIAPH1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Seizures, cortical blindness, microcephaly syndrome, MIM# 616632 Combined Immune deficiency Tags
Green Green List (high evidence)	DKC1	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 Phenotypes Dyskeratosis congenita, X-linked MIM# 305000 Bone marrow failure, pulmonary & hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation microcephaly, immunodeficiency aplastic anaemia thrombocytopaenia neurodevelopmental delay cerebellar hypoplasia opportunistic infections Tags
Green Green List (high evidence)	DNMT3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1 MIM# 242860 facial dysmorphic features flat nasal bridge developmental delay macroglossia bacterial/opportunistic infections (recurrent) malabsorption cytopaenia malignancies multiradial configurations of chromosomes 1, 9, 16 Hypogammaglobulinaemia agammaglobulinaemia variable antibody deficiency decreased immunoglobulin production low T/B/NK cells Tags treatable
Green Green List (high evidence)	DOCK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 40 MIM# 616433 T/B-cell lymphopaenia early-onset invasive herpes/viral/bacterial Infections function defects in T/B/NK cells immunodeficiency defective IFN-mediated immunity elevated IgM normal IgG/IgA levels Tags
Green Green List (high evidence)	DOCK8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700 T cell Lymphopaenia decraese T/B/NK cells Eosinophilia low IgM elevated IgE recurrent cutaneous/ viral/ bacterial/ fungal/ infections severe atopy/allergic disease autoimmune haemolytic anaemia eczema cancer diathesis Tags
Green Green List (high evidence)	DSG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0014218 Tags
Green Green List (high evidence)	EPG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Vici syndrome, MIM# 242840 Tags
Green Green List (high evidence)	ERCC6L2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Bone marrow failure syndrome 2, MIM# 615715 Tags
Green Green List (high evidence)	EXTL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425 Tags
Green Green List (high evidence)	FAT4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2, MIM# 616006 Low/variable T and B cells Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features Tags
Green Green List (high evidence)	FCHO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 76, MIM# 619164 Combined immunodeficiency T cells: low, poor proliferation B cells: normal number Recurrent infections (viral, mycobacteria, bacterial, fungal) lymphoproliferation Failure to thrive Increased activation-induced T-cell death Defective clathrin-mediated endocytosis Tags
Green Green List (high evidence)	FNIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705 Tags
Green Green List (high evidence)	FOXN1	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 Phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806 Tags
Green Green List (high evidence)	GINS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 55, MIM#617827 Tags
Green Green List (high evidence)	HELLS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM#616911 Tags
Green Green List (high evidence)	HTRA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIII, MIM# 617248 Tags
Green Green List (high evidence)	ICOS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 1 MIM# 607594 recurrent bacterial respiratory/gastrointestinal infections autoimmunity gastroenteritis low IgG/IgA normal-low IgM hypogammaglobulinaemia low-normal B-cells normal T-cells Bronchitis Lymphadenopathy Hepatomegaly Diarrhoea Tags SV/CNV
Green Green List (high evidence)	IKBKB	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 Phenotypes Immunodeficiency 15A, autosomal dominant, MIM# 618204 Immunodeficiency 15B, autosomal recessive, MIM# 615592 Tags
Green Green List (high evidence)	IKBKG	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 Phenotypes Ectodermal dysplasia and immunodeficiency 1 MIM# 300291 Immunodeficiency 33 MIM# 300636 Tags
Green Green List (high evidence)	IKZF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 13 MIM# 616873 recurrent bacterial respiratory infections Thrombocytopaenia immunodeficiency Hypogammaglobulinaemia decrease B-cells decrease B-cell differentiation decrease memory B/T cells Low Ig pneumocystis early CID onset Tags
Green Green List (high evidence)	IKZF2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes HELIOS deficiency MONDO:0800139 Tags
Green Green List (high evidence)	IKZF3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Immunodeficiency 84, MIM# 619437 Tags
Green Green List (high evidence)	IL21R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 56, MIM# 615207 Tags
Green Green List (high evidence)	IL2RG	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 Phenotypes Combined immunodeficiency, X-linked, moderate MIM# 312863 Severe combined immunodeficiency, X-linked MIM# 300400 recurrent viral/fungal/bacterial infections Low T/NK cells Low Ig levels lymphocytopaenia hypogammaglobulinaemia failure to thrive diarrhoea Pneumonia Thymic hypoplasia Tags
Green Green List (high evidence)	IL6ST	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523 Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response Hyper-IgE syndrome, autosomal dominant Tags
Green Green List (high evidence)	IL7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined immunodeficiency, MONDO:0015131, IL7-related Tags
Green Green List (high evidence)	IL7R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes severe combined immunodeficiency 104 MIM#608971 Tags
Green Green List (high evidence)	IRF4	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Combined immunodeficiency, MONDO:0015131, IRF4-related Tags
Green Green List (high evidence)	ITK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Lymphoproliferative syndrome 1 MIM# 613011 Lymphadenopathy Recurrent infections Hypogammaglobulinaemia Evidence of EBV infection EBV associated B cell Lymphoproliferation High EBV viral load Normal-low serum Ig Depleted CD4+ T cells Anaemia Thrombocytopaenia Hepatosplenomegaly Tags
Green Green List (high evidence)	ITPR3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined immunodeficiency, MONDO:0015131, ITPR3-related Tags
Green Green List (high evidence)	IVNS1ABP	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Immunodeficiency 70, MIM#618969 Tags
Green Green List (high evidence)	KDM6A	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 Phenotypes Kabuki syndrome 2 MIM#300867 Tags
Green Green List (high evidence)	KMT2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Kabuki syndrome 1 MIM#147920 Tags
Green Green List (high evidence)	LCK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 22 MIM# 615758 Recurrent infections Immune dysregulation autoimmunity Low CD4+ low CD8+ restricted T cell repertoire poor TCR signaling Normal IgG/IgA high IgM failure to thrive diarrhoea lymphopenia hypogammaglobulinemia anaemia thrombocytopaenia CD4+ T-cell lymphopenia Tags
Green Green List (high evidence)	LCP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 81, MIM# 619374 Tags
Green Green List (high evidence)	LIG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined immunodeficiency Lymphopaenia Hypogammaglobulinaemia Recurrent bacterial and viral infections Growth retardation Sun sensitivity, radiation sensitivity Macrocytosis Tags
Green Green List (high evidence)	LIG4	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes LIG4 syndrome MIM# 606593 T-/B- lymphocytopaenia Normal NK, radiation sensitivity Microcephaly low B/C cells low Ig raised IgM failure to thrive bacterial/viral/fungal infections hypogammaglobulinaemia neurodevelopmental delay microcephaly pancytopaenia Tags treatable
Green Green List (high evidence)	LRBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700 Normal-decreased CD4 numbers T cell dysregulation Low-normal B cells Reduced IgG and IgA Recurrent infections chronic diarrhoea inflammatory bowel disease hypogammaglobulinaemia pneumonitis autoimmune disorders thrombocytopaenia Tags
Green Green List (high evidence)	MAGT1	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 Phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM# 300853 XMEN Low CD4 inverted CD4/CD8 ratio reduced MAIT cells poor proliferation to CD3 decreased memory B cells progressive hypogammaglobulinaemia reduced NK cell EBV infection lymphoma viral infections respiratory and GI infections Glycosylation defects Tags
Green Green List (high evidence)	MALT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 12 MIM# 615468 poor T-cell proliferation normal T/B cell numbers poor specific antibody response recurrent bacterial/fungal/viral infections bronchiectasis failure to thrive Tags
Green Green List (high evidence)	MAP3K14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 112, MIM# 620449 NIK deficiency Poor T cell proliferation to antigen Low B-cell numbers Low NK number and function recurrent bacterial/viral/ cryptosporidium infections hypogammaglobulinaemia decreased immunoglobulin levels Tags
Green Green List (high evidence)	MOGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIb, MIM# 606056 Severe hypogammaglobulinaemia Bacterial and viral infections Severe neurologic disease Tags
Green Green List (high evidence)	MSN	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 50, MIM# 300988 Tags
Green Green List (high evidence)	MTHFD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780 Decreased Ig levels poor antibody responses to conjugated polysaccharide antigens low B/T/NK cells Recurrent bacterial infection megaloblastic anaemia failure to thrive neutropenia seizures intellectual disability folate-responsive Lymphopaenia Tags
Green Green List (high evidence)	MYSM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Bone marrow failure syndrome 4, MIM#618116 Tags treatable
Green Green List (high evidence)	NBN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nijmegen breakage syndrome, MIM#251260 Tags
Green Green List (high evidence)	NFE2L2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744 Recurrent respiratory and skin infection Growth retardation Developmental delay, borderline ID White matter cerebral lesions Tags
Green Green List (high evidence)	NFKB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 12 MIM# 616576 Normal-low IgG, IgA, IgM low-normal B cells low switched memory B cells hypogammaglobulinaemia recurrent respiratory and gastrointestinal infections Chronic obstructive pulmonary disease COPD EBV proliferation autoimmunity alopecia Tags
Green Green List (high evidence)	NFKB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 10 MIM# 615577 Low serum IgG, IgA, IgM low B cell numbers low switched memory B cells Recurrent sinopulmonary infections, Alopecia endocrinopathies ACTH deficiency Tags
Green Green List (high evidence)	NFKBIA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia and immunodeficiency 2 MIM# 612132 Ectodermal dysplasia TCR/ BCR activation impaired low memory and isotype switched B cells decreased IgG and IgA elevated IgM poor specific antibody responses diarrhoea agammaglobulinaemia ectodermal dysplasia recurrent respiratory and gastrointestinal infections colitis variable defects of skin, hair and teeth Tags
Green Green List (high evidence)	NHP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 2 MIM# 613987 Shortened telomeres Leukoplakia Nail dystrophy Bone marrow failure Pancytopaenia reticulate skin pigmentation Thrombocytopaenia recurrent opportunistic infections Tags
Green Green List (high evidence)	ORAI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 9, MIM# 612782 Tags
Green Green List (high evidence)	PARN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 6, MIM# 616353 Tags
Green Green List (high evidence)	PGM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 23, MIM# 615816 PGM3-CDG, MONDO:0014353 Tags
Green Green List (high evidence)	PNP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM# 613179 Autoimmune hemolytic anaemia neurological impairment SCID CID hypouricaemia failure to thrive chronic diarrhoea recurrent respiratory/ gastrointestinal infections normal-low Ig levels spastic paresis tremor ataxia DD Tags
Green Green List (high evidence)	POLA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes X-linked reticulate pigmentary disorder MONDO:0010523 Tags
Green Green List (high evidence)	POLD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 120, MIM# 620836 Low CD4 T cells Low B cells, normal maturation recurrent respiratory tract infections, skin infections, warts and molluscum short stature intellectual disability Tags
Green Green List (high evidence)	POLE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes FILS syndrome, MIM# 615139 IMAGE-I syndrome, MIM# 618336 Tags deep intronic
Green Green List (high evidence)	PRIM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes primordial dwarfism-immunodeficiency-lipodystrophy syndrome MONDO:0859276 Tags
Green Green List (high evidence)	PTCRA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 126, MIM# 620931 Tags
Green Green List (high evidence)	RAC2	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 Phenotypes Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis MIM# 608203 Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia MIM# 618987 Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986 Tags
Green Green List (high evidence)	RAD50	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nijmegen breakage syndrome-like disorder, MIM# 613078 Hypogammaglobulinaemia Tags
Green Green List (high evidence)	RAG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889 Combined cellular and humoral immune defects with granulomas MIM# 233650 Omenn syndrome MIM# 603554 Severe combined immunodeficiency, B cell-negative MIM# 601457 Tags
Green Green List (high evidence)	RAG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Omenn syndrome MIM# 603554 Severe combined immunodeficiency, B cell-negative MIM# 601457 Combined cellular and humoral immune defects with granulomas MIM# 233650 Tags
Green Green List (high evidence)	RBCK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895 muscular weakness cardiomyopathy recurrent bacterial/viral infections autoinflammation immunodeficiency Poor antibody responses to polysaccharides failure to thrive fever pneumonia Tags
Green Green List (high evidence)	RECQL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Rothmund-Thomson syndrome MONDO:0010002 Tags
Green Green List (high evidence)	RELA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Mucocutaneous ulceration, chronic, MIM# 618287 Impaired NFkB activation reduced production of inflammatory cytokines autoimmune cytopaenias Tags
Green Green List (high evidence)	RELB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 53, MIM# 617585 T cells: normal number, poor diversity, poor function recurrent infections Tags
Green Green List (high evidence)	RFX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Bare lymphocyte syndrome, type II, complementation group C MIM# 209920 Bare lymphocyte syndrome, type II, complementation group E MIM# 209920 Tags
Green Green List (high evidence)	RFXANK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes MHC class II deficiency, complementation group B MIM# 209920 Bare Lymphocyte Syndrome, type II, complementation group B Low CD4+ T cells reduced MHC II expression on lymphocytes Normal-low Ig levels Failure to thrive respiratory/gastrointestinal infections liver/biliary tract disease diarrhoea Severe autoimmune cytopaenia agammaglobulinaemia Tags founder
Green Green List (high evidence)	RFXAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Bare lymphocyte syndrome, type II, complementation group D MIM# 209920 Low CD4+ T cells reduced MHC II expression on lymphocytes Normal-low Ig levels Failure to thrive respiratory/gastrointestinal infections liver/biliary tract disease diarrhoea Severe autoimmune cytopaenia agammaglobulinaemia Tags
Green Green List (high evidence)	RMRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Cartilage hair hypoplasia (CHH) MIM#250250 shortened limbs short stature metaphysical dysplasia fine, sparse and/or light-coloured hair hematologic abnormalities CID impaired lymphocyte proliferation low Ig levels antibodies variably decreased bone marrow failure autoimmunity susceptibility to lymphoma and other cancers impaired spermatogenesis neuronal dysplasia of the intestine Tags
Green Green List (high evidence)	RNF168	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes RIDDLE syndrome MIM# 611943 Radiosensitivity Immune Deficiency Dysmorphic Features Learning difficulties Low IgG or IgA Short stature mild defect of motor control to ataxia normal intelligence to learning difficulties mild facial dysmorphism to microcephaly Tags
Green Green List (high evidence)	RNU4ATAC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lowry-Wood syndrome MIM#226960 Microcephalic osteodysplastic primordial dwarfism, type I MIM#210710 Roifman syndrome MIM#616651 Tags
Green Green List (high evidence)	RTEL1	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 Phenotypes Dyskeratosis congenita, autosomal dominant 4 MIM# 615190 Dyskeratosis congenita, autosomal recessive 5 MIM# 615190 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373 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 Phenotypes Immunodeficiency 102, MIM# 301082 Tags
Green Green List (high evidence)	SGPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Sphingosine Phosphate Lyase Insufficiency Syndrome RENI syndrome (MIM#617575) Tags
Green Green List (high evidence)	SKIV2L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Trichohepatoenteric syndrome 2, MIM# 614602 Respiratory infections IUGR Facial dysmorphic features Wooly hair Early-onset intractable diarrhoea Liver cirrhosis Platelet abnormalities Tags
Green Green List (high evidence)	SLC46A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Folate malabsorption, hereditary MIM# 229050 Decreased Ig levels megaloblastic anaemia failure to thrive Immunodeficiency if untreated for prolonged periods results in intellectual disability oral mucositis hypoimmunoglobulinaemia recurrent infections seizures motor impairment leukopaenia thrombocytopaenia Tags founder
Green Green List (high evidence)	SMARCAL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Schimke immune-osseous dysplasia MIM# 242900 T cell deficiency Short stature spondyloepiphyseal dysplasia renal dysfunction lymphocytopaenia nephropathy bacterial/viral/fungal infections may present as SCID bone marrow failure Tags
Green Green List (high evidence)	SP110	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hepatic veno-occlusive disease with immunodeficiency MIM#235550 Hepatic veno-occlusive disease susceptibility to Pneumocystis jirovecii pneumonia cytomegalovirus thrombocytopaenia hepatosplenomegaly cerebrospinal leukodystrophy memory T/B cell deficiency low Ig levels absent tissue plasma cells absent lymph node germinal centers hypogammaglobulinaemia Tags founder
Green Green List (high evidence)	SPINK5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Netherton syndrome MIM# 256500 Low switched and non-switched B cells High IgE and IgA Antibody variably decreased Congenital ichthyosis bamboo hair atopic diathesis increased bacterial infections failure to thrive food allergies Tags
Green Green List (high evidence)	STAT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hyper-IgE recurrent infection syndrome MIM# 147060 Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952 Tags
Green Green List (high evidence)	STAT5B	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 Phenotypes Growth hormone insensitivity with immunodeficiency, MIM# 245590 Tags somatic
Green Green List (high evidence)	STAT6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes hyper-IgE syndrome MONDO:0018037 Tags
Green Green List (high evidence)	STIM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 10, MIM# 612783 Tags
Green Green List (high evidence)	STK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM# 614868 CD4/CD8 lymphopaenia cardiac malformations reduced naïve T cells increased TEM and TEMRA cells poor T cell Proliferation Reduced memory B cells Reduced IgM, increased IgG, IgA, IgE impaired antibody responses intermittent neutropaenia bacterial/ viral/ fungal infections autoimmune cytopaenias mucocutaneous candidiasis cutaneous warts Tags
Green Green List (high evidence)	TAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Bare lymphocyte syndrome, type I MIM#604571 Low CD8 absent MHC I on lymphocytes vasculitis pyoderma gangrenosum skin lesions recurrent respiratory tract infections bronchiectasis Tags
Green Green List (high evidence)	TAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes MHC class I deficiency 2, MIM# 620813 Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571 Low CD8 absent MHC I on lymphocytes Vasculitis pyoderma gangrenosum recurrent bacterial/viral respiratory infections bronchiectasis Tags
Green Green List (high evidence)	TBCE	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410 Tags
Green Green List (high evidence)	TBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes DiGeorge syndrome MIM# 188400 Velocardiofacial syndrome MIM# 192430 Decreased T cells Hypoparathyroidism Conotruncal cardiac malformation velopalatal insufficiency abnormal facies (cleft palate, prominent tubular nose etc) intellectual disability Immunodeficiency thymic hypoplasia or aplasia with resultant T‐cell dysfunction renal anomalies autoimmunity Tags SV/CNV
Green Green List (high evidence)	TCN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Transcobalamin II deficiency MIM# 275350 Decreased Ig levels Megaloblastic anaemia pancytopaenia if untreated (B12) for prolonged periods results in intellectual disability failure to thrive diarrhoea hypogammaglobulinaemia pallor hypotonia respiratory infection Tags
Green Green List (high evidence)	TGFBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Loeys-Dietz syndrome 1 MIM#609192 Tags
Green Green List (high evidence)	TGFBR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Loeys-Dietz syndrome 2 MIM#610168 Tags
Green Green List (high evidence)	TLR8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078 Tags somatic
Green Green List (high evidence)	TTC37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Trichohepatoenteric syndrome 1, MIM# 222470 Respiratory infections IUGR Facial dysmorphic features Wooly hair:Early-onset intractable diarrhoea Liver cirrhosis Platelet abnormalities Tags
Green Green List (high evidence)	TTC7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Gastrointestinal defects and immunodeficiency syndrome, 243150 Tags
Green Green List (high evidence)	WAS	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital, X-linked MIM# 300299 Wiskott-Aldrich syndrome MIM# 301000 Thrombocytopaenia, X-linked MIM# 313900 Tags
Green Green List (high evidence)	WIPF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Wiskott-Aldrich syndrome 2 MIM# 614493 Reduced T cells defective lymphocyte responses to anti-CD3 high IgE Thrombocytopenia with or without small platelets recurrent bacterial and viral Infections eczema bloody diarrhoea gastrointestinal bleeding WAS protein absent Tags
Green Green List (high evidence)	ZAP70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 48, MIM# 269840 Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006 Tags
Green Green List (high evidence)	ZBTB24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM# 614069 Facial dysmorphic features developmental delay macroglossia bacterial/opportunistic infections malabsorption cytopaenia malignancies multiradial configurations of chromosomes 1, 9, 16 Hypogammaglobulinaemia or agammaglobulinaemia variable antibody deficiency Tags
Green Green List (high evidence)	ZNF341	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282 Mild facial dysmorphism Early onset eczema Recurrent bacterial skin infections, abscesses Recurrent respiratory infections, lung abscesses and pneumothoraces Hyperextensible joints, bone fractures, retention of primary teeth Tags
Amber Amber List (moderate evidence)	CD28	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901 Tags
Amber Amber List (moderate evidence)	CD8A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes CD8 deficiency, familial, MIM# 608957 Tags
Amber Amber List (moderate evidence)	COPG1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency 128, MIM# 620983 Tags
Amber Amber List (moderate evidence)	ERBIN	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Combined immunodeficiency, MONDO:0015131, ERBIN-related Recurrent respiratory infections Susceptibility to S.aureus Eczema Hyperextensible joints Scoliosis Arterial dilatation in some Tags
Amber Amber List (moderate evidence)	FLT3LG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes ?Immunodeficiency 125 MIM#620926 Tags
Amber Amber List (moderate evidence)	FOXI3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes thymic dysplasia MONDO:0004195 Tags
Amber Amber List (moderate evidence)	GUK1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial DNA depletion syndrome 21, MIM# 621071 Tags
Amber Amber List (moderate evidence)	ICOSLG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 119, MIM# 620825 Combined immunodeficiency recurrent bacterial and viral infections neutropaenia Tags
Amber Amber List (moderate evidence)	IL6R	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Recurrent pyogenic infections, cold abscesses High circulating IL-6 levels High IgE IgE recurrent infection syndrome, MIM#618944 Tags
Amber Amber List (moderate evidence)	KMT2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Wiedemann-Steiner syndrome MIM#605130 Tags
Amber Amber List (moderate evidence)	LCP1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Bone marrow failure syndrome, MONDO:0000159, LCP1-related Tags
Amber Amber List (moderate evidence)	MAN2B2	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related Combined Immune deficiency Tags
Amber Amber List (moderate evidence)	MCM10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 80 with or without congenital cardiomyopathy MONDO:0030266 Tags
Amber Amber List (moderate evidence)	MCM4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 54 MIM# 609981 Decreased NK cell number and function Viral infections (EBV, HSV, VZV) Short stature B cell lymphoma Adrenal failure Failure to thrive Microcephaly Increased chromosomal breakage Hyperpigmentation Lymphadenopathy Tags founder
Amber Amber List (moderate evidence)	NFATC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Inborn error of immunity, MONDO:0003778, NFATC1-related Combined Immune deficiency Tags
Amber Amber List (moderate evidence)	NSMCE3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241 Tags
Amber Amber List (moderate evidence)	PI4KA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708 Tags
Amber Amber List (moderate evidence)	PMS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mismatch repair cancer syndrome, MIM# 276300 Tags
Amber Amber List (moderate evidence)	POLD2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145 Low CD4 T cells Low B cells, normal maturation recurrent respiratory tract infections, skin infections, warts and molluscum short stature intellectual disability Tags
Amber Amber List (moderate evidence)	POLD3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 122, MIM# 620869 Tags
Amber Amber List (moderate evidence)	REL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 92, MIM# 619652 Combined immunodeficiency T cells: normal, decreased memory CD4, poor proliferation B cells: low, mostly naive, few switched memory B cells, impaired proliferation Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms Defective innate immunity Tags
Amber Amber List (moderate evidence)	RHOH	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307 Tags
Amber Amber List (moderate evidence)	RNF31	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 115 with autoinflammation, MIM# 620632 Tags
Amber Amber List (moderate evidence)	SLC19A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined immunodeficiency, SLC19A1-related MONDO:0015131 Tags
Amber Amber List (moderate evidence)	TAPBP	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Bare lymphocyte syndrome, type I, MIM# 604571 MHC class I deficiency 3, MIM# 620814 Tags SV/CNV
Amber Amber List (moderate evidence)	TERC	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Tags
Amber Amber List (moderate evidence)	TERT	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes {Dyskeratosis congenita, autosomal dominant 2}, MIM# 613989 {Dyskeratosis congenita, autosomal recessive 4}, MIM# 613989 Tags
Amber Amber List (moderate evidence)	TFRC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 46, MIM# 616740 T cells: normal number, poor proliferation B cells: normal number, low memory B cells recurrent infections, neutorpaenia thrombocytopaenia Tags
Amber Amber List (moderate evidence)	TINF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 3, MIM# 613990 Revesz syndrome, MIM# 268130 Tags
Amber Amber List (moderate evidence)	TRAC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 Tags founder
Red Red List (low evidence)	CRACR2A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes primary immunodeficiency disease, MONDO:0003778, CRACR2A-associated late onset combined immunodeficiency Tags
Red Red List (low evidence)	DCLRE1B	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome Tags
Red Red List (low evidence)	GINS4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes combined immunodeficiency MONDO:0015131 Tags
Red Red List (low evidence)	IL21	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 11, MIM# 615767 Tags
Red Red List (low evidence)	NFKBID	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NOP10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 1, MIM#224230 Tags
Red Red List (low evidence)	POLE2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Combined immunodeficiency Lymphopaenia Lack of TRECS, absent proliferation in response to antigens Hypoglobulinaemia Recurrent infections, disseminated BCG infections Autoimmunity Facial dysmorphism Tags
Red Red List (low evidence)	RGS10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Immunodeficiency short stature Tags
Red Red List (low evidence)	SEMA3E	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes CHARGE syndrome, MIM# 214800 Tags
Red Red List (low evidence)	TKFC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Inborn error of immunity, MONDO:0003778, TKFC-related Tags
Red Red List (low evidence)	TNFRSF4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 16, MIM# 615593 Tags
Red Red List (low evidence)	TOM1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Immunodeficiency 85 and autoimmunity, MIM# 619510 Tags
Red Red List (low evidence)	TPP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hoyeraal-Hreidarsson syndrome Tags
Red Red List (low evidence)	UNC119	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes ?Immunodeficiency 13 MIM#615518 Tags

Combined Immunodeficiency (Version 1.114)

9 reviewers

167 Entities

167 reviewed, 123 green

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags