
What is STAT3 gain-of-function disease?
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.
