Whole-exome sequencing as a diagnostic tool for IPEX syndrome

Immune dysregulation-Polyendocrinopathy-Enteropathy-X-linked (IPEX) syndrome is a lifethreatening congenital autoimmune disorder caused by mutations in the forkhead box protein 3 (FOXP3) gene. Typical clinical manifestations of IPEX patients are early onset of intractable diarrhea, type 1 diabetes mellitus, and skin diseases.