About: STAT3 GOF

STAT3 GOF is a rare genetic disorder of the immune system. Signal transducer and activator of transcription 3 (STAT3) is a transcription factor which is encoded by the STAT3 gene in humans. Germline gain-of-function (GOF) mutations in the gene STAT3 causes this early-onset autoimmune disease characterized by lymphadenopathy, autoimmune cytopenias, multiorgan autoimmunity, infections, eczema, and short stature. Investigations conducted by Sarah E Flanagan and Mark Russell from the Institute of Biomedical and Clinical Science, University of Exeter Medical School, Emma Haapaniemi from the Institute of Biomedical and Clinical Science, University of Exeter Medical Schoolby, and Joshua Milner from the National Institute of Allergy and Infectious Disease, National Institutes of Health have descri