signal transducer and activator of transcription 1
OMIM: 600555
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 5.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892, Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796, Immunodeficiency 31C, autosomal dominant 614162, Immunodeficiency 31A, mycobacteriosis, Candidiasis, familial, 7, Combined immunodeficiency, Chronic mucocutaneous candidiasis (CMC), Defects with susceptibility to mycobacterial infection (MSMD), Severe viral infections, mycobacterial infection, CMC, various fungal, bacterial and viral (HSV) infections, auto-immunity (thyroiditis, diabetes, cytopenias), enteropathy, Susceptibility to mycobacteria, Salmonella, Defects in Intrinsic and Innate Immunity