Gene abbreviation | Full gene name | Inheritance | Disorder name/phenotype* |
ALPI | Intestinal alkaline phosphatase | AR | ALPI deficiency |
ARPC1B | Actin-related protein 2/3 complex subunit 1B | AR | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
CD55 | CD55 molecule (Cromer blood group) | AR | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy |
CTLA4 | Cytotoxic T-lymphocyte-associated protein 4 | AD | Autoimmune lymphoproliferative syndrome (ALPS), type V |
CYBA | Cytochrome b-245 alpha chain | AR | CYBA-related chronic granulomatous disease |
CYBB | Cytochrome b-245 beta chain | XLR | X-linked chronic granulomatous disease |
CYBC1 | Cytochrome b-254 chaperone 1 | AR | Chronic granulomatous disease 5 |
DEF6 | DEF6 guanine nucleotide exchange factor | AR | DEF6 deficiency |
FCHO1 | FCH domain only protein 1 | AR | Immunodeficiency 76 |
FOXP3 | Forkhead box P3 | XLR | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome |
IKBKG | Inhibitor of nuclear factor kappa B kinase subunit gamma | XLR | Ectodermal dysplasia with immunodeficiency 1 |
IL2RA | Interleukin 2 receptor subunit alpha | AR | Immunodeficiency 41 with lymphoproliferation and autoimmunity |
IL2RB | Interleukin 2 receptor beta | AR | Immunodeficiency 63 with lymphoproliferation and autoimmunity |
IL10 | Interleukin 10 | AR | Early-onset inflammatory bowel disease |
IL10RA | Interleukin 10 receptor subunit alpha | AR | Early-onset inflammatory bowel disease 28 |
IL10RB | Interleukin 10 receptor subunit beta | AR | Early-onset inflammatory bowel disease 25 |
ITCH | Itchy E3 ubiquitin protein ligase | AR | Multisystem autoimmune disease with facial dysmorphism |
LRBA | LPS-responsive beige-like anchor protein | AR | Common variable immunodeficiency-8 with autoimmunity |
NCF1 | Neutrophil cytosolic factor 1 (p47-phox) | AR | Chronic granulomatous disease 1 |
NCF2 | Neutrophil cytosolic factor 2 (p67-phox) | AR | Chronic granulomatous disease 2 |
NCF4 | Neutrophil cytosolic factor 4 (p40-phox) | AR | Chronic granulomatous disease 3 |
NLRC4 | NLR family CARD domain-containing 4 | AD | Familial cold autoinflammatory syndrome 4 |
NOD2 | Nucleotide-binding oligomerization domain-containing 2 | AD | Inflammatory bowel disease 1 (Crohn disease) |
PIK3CD | Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | AR | Immunodeficiency 14B |
RELA | RelA protooncogene, NFkB subunit | AD | Chronic mucocutaneous ulceration |
RIPK1 | Receptor-interacting serine/threonine kinase 1 | AR | Immunodeficiency 57 with autoinflammation |
SKIV2L | SKI2-like RNA helicase | AR | Trichohepatoenteric syndrome 2 |
TGFB1 | Transforming growth factor beta 1 | AR | Inflammatory bowel disease, immunodeficiency, and encephalopathy |
TNFAIP3 | Tumor necrosis factor alpha-induced protein 3 | AD | Behçet-like familial autoinflammatory syndrome |
TRIM22 | Tripartite motif-containing protein 22 | AR | TRIM22 deficiency |
TTC7A | Tetratricopeptide repeat domain 7A | AR | Gastrointestinal defects and immunodeficiency syndrome |
TTC37 | Tetratricopeptide repeat domain 37 | AR | Trichohepatoenteric syndrome 1 |
WAS | Wiskott-Aldrich syndrome | XLR | Wiskott-Aldrich syndrome (WAS)/eczema, thrombocytopenia, and immunodeficiency |
WDR1 | WD repeat-containing protein 1 | AR | Periodic fever, immunodeficiency, and thrombocytopenia syndrome |
XIAP | X-linked inhibitor of apoptosis | XLR | X-linked lymphoproliferative syndrome (XLP) 2 |
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