STAT3 gain-of-function disease is a rare genetic disorder of the immune system caused by mutations in the STAT3 gene. These mutations lead to overactivity of the gene's protein, resulting in autoimmunity and lymphoproliferative symptoms. The disease is inherited in an autosomal dominant manner and can affect multiple organs and tissues, with variable clinical manifestations including lymphadenopathy, autoimmune cytopenias, and infections.
5 answers
Raffaele
Tue Nov 05 2024
Clinically, the manifestation of STAT3 Gain-Of-Function (GOF) disease exhibits considerable diversity.
GwanghwamunGuardian
Tue Nov 05 2024
One prominent feature of this disease is the accumulation of immune cells known as lymphocytes, a condition referred to as lymphoproliferation.
SeoulSerenitySeekerPeaceLover
Tue Nov 05 2024
Additionally, individuals with STAT3 GOF disease often experience early-onset autoimmunity, which impacts multiple organs and tissues throughout the body.
DaeguDivaDanceQueenElegantStride
Tue Nov 05 2024
The autoimmune response triggered by STAT3 GOF disease can lead to a wide range of symptoms and severity levels.
QuasarPulse
Mon Nov 04 2024
Unfortunately, predicting the exact timing, location, and extent of these problems in any given individual is currently not possible.