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.
7 answers
Lucia
Tue Nov 05 2024
Patients may suffer from bacterial, viral, or invasive fungal infections.
Tommaso
Tue Nov 05 2024
The STAT1 gain-of-function (GOF) syndrome is a rare genetic disorder.
Nicolo
Tue Nov 05 2024
Autoimmunity is another common feature of STAT1 GOF syndrome.
DavidLee
Tue Nov 05 2024
It is responsible for the majority of cases of chronic mucocutaneous candidiasis.
SamuraiWarriorSoulful
Tue Nov 05 2024
Autoinflammatory manifestations can also be observed in some patients.