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....

Descripción completa

Detalles Bibliográficos
Autores principales: Karagüzel, Gülay, Polat, Recep, Abul, Mehtap H., Cebi, Alper Han, Orhan, Fazıl
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422912/
https://www.ncbi.nlm.nih.gov/pubmed/34044499
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0005
_version_ 1784777915335966720
author Karagüzel, Gülay
Polat, Recep
Abul, Mehtap H.
Cebi, Alper Han
Orhan, Fazıl
author_facet Karagüzel, Gülay
Polat, Recep
Abul, Mehtap H.
Cebi, Alper Han
Orhan, Fazıl
author_sort Karagüzel, Gülay
collection PubMed
description 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.
format Online
Article
Text
id pubmed-9422912
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Galenos Publishing
record_format MEDLINE/PubMed
spelling pubmed-94229122022-09-07 Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset Karagüzel, Gülay Polat, Recep Abul, Mehtap H. Cebi, Alper Han Orhan, Fazıl J Clin Res Pediatr Endocrinol Case Report 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. Galenos Publishing 2022-09 2022-08-25 /pmc/articles/PMC9422912/ /pubmed/34044499 http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0005 Text en ©Copyright 2022 by Turkish Pediatric Endocrinology and Diabetes Society | The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Karagüzel, Gülay
Polat, Recep
Abul, Mehtap H.
Cebi, Alper Han
Orhan, Fazıl
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset
title Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset
title_full Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset
title_fullStr Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset
title_full_unstemmed Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset
title_short Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset
title_sort immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome in two siblings: same mutation but different clinical manifestations at onset
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422912/
https://www.ncbi.nlm.nih.gov/pubmed/34044499
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0005
work_keys_str_mv AT karaguzelgulay immunedysregulationpolyendocrinopathyenteropathyxlinkedsyndromeintwosiblingssamemutationbutdifferentclinicalmanifestationsatonset
AT polatrecep immunedysregulationpolyendocrinopathyenteropathyxlinkedsyndromeintwosiblingssamemutationbutdifferentclinicalmanifestationsatonset
AT abulmehtaph immunedysregulationpolyendocrinopathyenteropathyxlinkedsyndromeintwosiblingssamemutationbutdifferentclinicalmanifestationsatonset
AT cebialperhan immunedysregulationpolyendocrinopathyenteropathyxlinkedsyndromeintwosiblingssamemutationbutdifferentclinicalmanifestationsatonset
AT orhanfazıl immunedysregulationpolyendocrinopathyenteropathyxlinkedsyndromeintwosiblingssamemutationbutdifferentclinicalmanifestationsatonset

Ejemplares similares