ESPE Abstracts

Introduction and Purpose: STAT3 gain-of-function (GOF) syndrome is a rare monogenic autosomal dominant disease, caused by activating mutations in the STAT3 gene encoding the STAT3 protein, which is involved in the signal transduction pathway. Disruption of STAT3 structure leads to an early-onset multi-organ disease, characterized by lymphoproliferation, autoimmune cytopenias and growth retardation. Treatment includes immunosuppression, immunotherapy and alloge...