ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : 14 Issue : 3 Year : 2022
Forms

Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset [J Clin Res Pediatr Endocrinol]
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, Fazıl Orhan2
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

Gülay Karagüzel, Recep Polat, Mehtap H. Abul, Alper Han Cebi, Fazıl Orhan. Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset. J Clin Res Pediatr Endocrinol. 2022; 14(3): 361-365

Corresponding Author: Gülay Karagüzel, Türkiye
Manuscript Language: English
LookUs & Online Makale