ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 14 Issue: 2 Year: 2022
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome in two siblings; same mutation but different clinical manifestations at onset [J Clin Res Pediatr Endocrinol]
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



Corresponding Author: Gulay Karaguzel, Türkiye
Manuscript Language: English
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