ESPE Abstracts

Background: Monogenic disorders of the immune system are increasingly recognized as a cause of early-onset immune dysregulation and autoimmunity. We recently identified 13 patients with a newly-described syndrome of early-onset polyautoimmunity, including endocrinopathies, and immune deficiency caused by gain-of-function (GOF) variants in the STAT3 gene. STAT3 is a highly conserved transcription factor that affects cytokine-induced changes in gene expression....