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....

Abstract unavailable...

Type 1 diabetes (T1D) is considered chronic autoimmune disease in which autoreactive T-cells and inflammation cause severe loss of pancreatic beta cells. Insulitis, the pathologic hallmark of T1D, is an inflammatory lesion consisting of immune cell infiltrates around and within the islets. New research initiatives and methodologies are advancing our understanding of pancreas pathology. A major impetus to the field has been given by the institution of the JDRF nPOD (Network for...