STAT3 is a transcriptional factor involved in a broad spectrum of adaptive and innate immune functions.
STAT3 GOF DISEASE
STAT3 gain-of-function disease is a rare genetic disorder of the immune system. STAT3 is a signal transducer
and activator of transcription 3, The effect caused by this mutation is that the gene’s protein becomes overactive.
STAT3 GOF disease is an early-onset autoimmune and lymphoproliferative disease. The symptoms vary and can include swelling of the lymph nodes (lymphadenopathy), reductions in the number of blood cells (autoimmune cytopenias), autoimmunity that affects multiple organs and tissues, infections, eczema, and in some cases, short stature.