IPEX due to an exon 7 skipping FOXP3 mutation with autoimmune diabetes mellitus cured by selective T-Reg cell engraftment

摘要

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare inherited disorder leading to severe organ-specific autoimmunity. IPEX is caused by hemizygous mutations in FOXP3, which codes for a master transcription factor of regulatory T (T-Reg) cell development and function.