hrp0092p2-90 | Diabetes and Insulin | ESPE2019

Neonatal Diabetes in Two Siblings with Foxp3 Variant

Colombi Carolina , Tornese Virginia , Pott Godoy Clara , Peña Sonia , De Franco Elisa , Guntsche Zelmira

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor. This factor plays a key role in the differentiation and function of CD4+ CD25+ regulatory T cells, essential for the establishment and maintenance of natural tolerance.Objective: To describe clinic...