Gene abbreviation | Full gene name | Inheritance | Disorder name/phenotype* |
AIRE | Autoimmune regulator | AR | Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia |
CTLA4 | Cytotoxic T-lymphocyte-associated protein 4 | AD | Autoimmune lymphoproliferative syndrome, type V |
FOXP3 | Forkhead box P3 | XLR | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome |
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 |
MCM4 | Minichromosome maintenance complex component 4 | AR | Natural killer cell and glucocorticoid deficiency with DNA repair defect |
NFKB2 | Nuclear factor kappa B subunit 2 | AD | Common variable immunodeficiency with central adrenal insufficiency |
STAT1 | Signal transducer and activator of transcription 1 | AD | Immunodeficiency 31C |
STAT3 | Signal transducer and activator of transcription 3 | AD | Autoimmune disease, multisystem, infantile onset |
STAT5B | Signal transducer and activator of transcription 5B | AD, AR | Growth hormone insensitivity with immunodeficiency |
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