J Clin Res Pediatr Endocrinol. 2022; 14(3): 361-365 | DOI: 10.4274/jcrpe.galenos.2021.2021.0005

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset

Gülay Karagüzel¹, Recep Polat¹, Mehtap H. Abul², Alper Han Cebi³, Fazýl Orhan^2
1Karadeniz Technical University Faculty of Medicine, Department of Pediatric Endocrinology, Trabzon, Turkey
²Karadeniz Technical University Faculty of Medicine, Department Pediatric Allergy and Immunology, Trabzon, Turkey
³Karadeniz Technical University Faculty of Medicine, Department of Genetics, 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, 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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