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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information


New avenues in paediatric autoimmune disease

hrp0086s4.1 | New avenues in paediatric autoimmune disease | ESPE2016

Activating Mutations in STAT3 Leading to Early-Onset Multi-organ Autoimmune Disease

Cooper Megan

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....

hrp0086s4.3 | New avenues in paediatric autoimmune disease | ESPE2016

Type 1 Diabetes: Lessons from nPOD Pathology and Clinical Trials

Pugliese Alberto

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...