Questions tagged [stat1 gof syndrome]

Eleonora Sun Nov 03 2024 | 7 answers 1284

STAT1 GOF syndrome is a rare genetic condition caused by mutations in the STAT1 gene, leading to a hyperactive immune response. It is characterized by a range of clinical manifestations, including recurrent fungal infections, particularly chronic mucocutaneous candidiasis, and autoimmune diseases. The syndrome often presents with immune dysregulation, where the body's immune system attacks both invading pathogens and healthy cells.