STAT1-Associated Immunodeficiency

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant immune dysregulation condition characterized by chronic mucocutaneous candidiasis, as well as other variable clinical features. It is caused by gain-of-function mutation(s) in the STAT1 gene, encoding signal transducer and activator of transcription 1-alpha/beta.

**Synonyms:** - CANDF7 - Familial Candidiasis 7 - IMD31C - Immunodeficiency 31C