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

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....

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Bibliographic Details
Published in:	Journal of clinical research in pediatric endocrinology Vol. 14; no. 3; pp. 361 - 365
Main Authors:	Karaguzel, Gulay, Polat, Recep, Abul, Mehtap H, Cebi, Alper Han, Orhan, Fazil
Format:	Journal Article
Language:	English
Published:	Galenos Yayinevi Tic. Ltd 01-09-2022 Galenos Publishing Galenos Yayincilik
Subjects:	Autoimmune diseases Care and treatment Case Report Children Development and progression Diagnosis Diseases immune dysregulation polyendocrinopathy enteropathy x-linked syndrome neonatal diabetes renal disease Turkey
Online Access:	Get full text
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Summary:	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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1308-5727 1308-5735 1308-5727
DOI:	10.4274/jcrpe.galenos.2021.2021.0005