Gene abbreviation | Full gene name | Inheritance | Disorder name/phenotype* |
ADAM17 | ADAM metallopeptidase domain 17 | AR | Neonatal inflammatory skin and bowel disease 1 |
CARD11 | Caspase recruitment domain family member 11 | AD | Immunodeficiency 11B with atopic dermatitis |
DOCK8 | Dedicator of cytokinesis 8 | AR | Hyper-IgE recurrent infection syndrome 2 |
ERBB2IP | Erbin | AD | ERBIN deficiency |
FOXP3 | Forkhead box P3 | XLR | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome |
IL2RB | Interleukin 2 receptor beta | AR | Immunodeficiency 63 with lymphoproliferative and autoimmunity |
IL6R | Interleukin 6 receptor | AR | Hyper-IgE recurrent infection syndrome 5 |
IL6ST | Interleukin 6 signal transducer | AD, AR | Hyper-IgE recurrent infection syndrome 4 |
MALT1 | MALT1 paracaspase | AR | Immunodeficiency 12 |
SPINK5 | Serine peptidase inhibitor, Kazal type 5 | AR | Netherton syndrome/ichthyosiform erythroderma with hypotrichosis and hyper-IgE |
STAT3 | Signal transducer and activator of transcription 3 | AD | Hyper-IgE recurrent infection syndrome 1 |
STAT5B | Signal transducer and activator of transcription 5B | AD | STAT5B gain of function |
WAS | Wiskott-Aldrich syndrome | XLR | Wiskott-Aldrich syndrome (WAS)/eczema, thrombocytopenia, and immunodeficiency |
ZNF341 | Zinc finger protein 341 | AR | Hyper-IgE recurrent infection syndrome 3 |
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