J Clin Res Pediatr Endocrinol. Ahead of Print: JCRPE-74046 | DOI: 10.4274/jcrpe.galenos.2021.2021.0005

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

Gulay Karaguzel¹, Recep Polat², Mehtap H Abul³, Alper Han Cebi⁴, Fazil Orhan
¹Professor in pediatric endocrinology, Karadeniz Technical University, School of Medicine, Department of Pediatric Endocrinology, Trabzon, Turkey
²Pediatric Endocrinologist, Karadeniz Technical University, School of Medicine, Department of Pediatric Endocrinology, Trabzon, Turkey
³Pediatric Allergist and Immunologist, Karadeniz Technical University, School of Medicine, Department Pediatric Allergy and Immunology, Trabzon, Turkey
⁴Assisstant Professor in genetics, Karadeniz Technical University, School of Medicine, Department of Genetics, Trabzon, Turkey
⁵Professor in pediatric allergy and immunology, Karadeniz Technical University, School of Medicine, Department Pediatric Allergy and Immunology, Trabzon, Turkey

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

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