hrp0095p1-452 | Diabetes and Insulin | ESPE2022

Limited genotype-phenotype correlation in FOXP3 gene within same family member

Sharaf Muna , Alaaraj Nada , Shurrab Shaymaa , Zangen David

Introduction: FOXP3 protein is crucial in enabling T-regulatory cells to maintain tolerance to self-antigens. Mutations in human Foxp3 gene are associated with immune diseases, such as multi-organ autoimmune disorder, immune dysregulation, polyendocrinopathy, enteropathy and X-linked syndrome (IPEX).Case Presentation: A 15 months old male, presented initially at 2 weeks of age with failure to thrive hyperglycemia and sev...