Activating STAT1 Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A mutation in the STAT1 gene that results in an increase in cytokine-related functions associated with IFN-alpha/beta, IFN-gamma, IFN-delta, and IL-27. STAT1 mutations of this type are associated with autosomal dominant immunodeficiency 31C.

**Synonyms:** - Activating STAT1 Mutation - STAT-1 GOF - STAT1 Activating Gene Mutation - STAT1 Activating Mutation - STAT1 Gain of Function - STAT1 Gain of Function Gene Mutation - STAT1 Gain of Function Mutation - STAT1 gain of function