STAT3-gain of function mutation as a cause of severe bronchiectasis and multi-organ autoimmunity; A case report

Background: Signal transducer and activator of transcription 3 (STAT3) is a member of a family of proteins involved in the regulation of inflammation, differentiation, proliferation and survival. Loss or gain-of-function mutations in STAT3 lead to infectious and autoimmune complications. Recently, STAT3 gain-of-function mutations have been associated with the development of a multi-organ autoimmune syndrome. Case presentation: Here, we describe a 38-year-old male who presented with severe diffuse bronchiectasis in addition to gastrointestinal, dermatological, and malignant manifestations. Following negative work…