Gene abbreviation | Full gene name | Inheritance | Disorder name/phenotype* |
CARD11 | Caspase recruitment domain family member 11 | AD | Immunodeficiency-11B with atopic dermatitis |
CARMIL2 | Capping protein regulator and myosin 1 linker 2 | AR | Immunodeficiency 58 |
CTLA4 | Cytotoxic T-lymphocyte-associated protein 4 | AD | Autoimmune lymphoproliferative syndrome (ALPS), type V |
DOCK8 | Dedicator of cytokinesis 8 | AR | Hyper-IgE recurrent infection syndrome 2 |
FOXP3 | Forkhead box P3 | XLR | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome |
PGM3 | Phosphoglucomutase 3 | AR | Immunodeficiency-vasculitis-myoclonus syndrome |
SPINK5 | Serine peptidase inhibitor, Kazal type 5 | AR | Netherton syndrome/ichthyosiform erythroderma with hypotrichosis and hyper-IgE |
WAS | Wiskott-Aldrich syndrome | XLR | Wiskott-Aldrich syndrome (WAS)/eczema, thrombocytopenia, and immunodeficiency |
WIPF1 | WAS/WASL-interacting protein family member 1 | AR | Wiskott-Aldrich syndrome 2 |
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