Case Report

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome in two siblings; same mutation but different clinical manifestations at onset

10.4274/jcrpe.galenos.2021.2021.0005

  • Gulay Karaguzel
  • Recep Polat
  • Mehtap H Abul
  • Alper Han Cebi
  • Fazil Orhan

Received Date: 06.01.2021 Accepted Date: 10.05.2021 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 34044499

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an early onset systemic autoimmune genetic disorder caused by mutation of the forkhead box protein 3 (FOXP3) gene. Enteropathy, endocrinopathy and skin manifestations are considered the classic triad of IPEX syndrome. However, the patients with IPEX syndrome display a variety of phenotypes including life threatening multi-organ autoimmunity.

Here, we present the case of two siblings with IPEX syndrome with the same hemizygous mutation, but with different types of symptomology at onset of the disease.

Keywords: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, neonatal diabetes, renal disease