STAT3 gain-of-function mutation presenting with adult-onset recurrent abdominal pain, fever and lymphadenopathy, managed by JAK inhibitor therapy
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Signal transducer and activator of transcription 3 (STAT3) gain-of-function (GOF) syndrome is a rare genetic immune dysregulation disorder that typically presents in infancy with autoimmunity, lymphoproliferation, susceptibility to infections and growth delay.... ...
