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A Novel Variant of X-Linked Moesin Gene in a Boy With Inflammatory Bowel Disease Like Disease-A Case Report

Variants in the MSN gene were recently reported as the cause of a primary immunodeficiency disease called X-linked moesin-associated immunodeficiency (X-MAID). Hitherto, only 10 patients were reported worldwide. Here, we report a boy who presented with recurrent high fever, oral ulcers, abdominal pa...

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Autores principales: Fang, Youhong, Luo, Youyou, Liu, Yang, Chen, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9224403/
https://www.ncbi.nlm.nih.gov/pubmed/35754805
http://dx.doi.org/10.3389/fgene.2022.873635
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author Fang, Youhong
Luo, Youyou
Liu, Yang
Chen, Jie
author_facet Fang, Youhong
Luo, Youyou
Liu, Yang
Chen, Jie
author_sort Fang, Youhong
collection PubMed
description Variants in the MSN gene were recently reported as the cause of a primary immunodeficiency disease called X-linked moesin-associated immunodeficiency (X-MAID). Hitherto, only 10 patients were reported worldwide. Here, we report a boy who presented with recurrent high fever, oral ulcers, abdominal pain, and hematochezia for over 2 weeks. His serum inflammatory markers were elevated, and colonoscopy showed multiple colon ulcers and terminal ileum ulcers which resemble colitis caused by inflammatory bowel disease. A novel heterozygous variant c.934G>T(p.Glu312Ter) in the MSN gene was identified using whole exome sequencing (WES) and trio analysis. Intestinal ulcers were almost healed after inducing therapy with steroids and maintenance treatment of anti-TNFα therapy. We summarized the genotype and phenotype of reported X-MAID patients and presented the patient’s unique phenotype in this study. This study also expanded the spectrum of MSN mutation-caused immunodeficiency.
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spelling pubmed-92244032022-06-24 A Novel Variant of X-Linked Moesin Gene in a Boy With Inflammatory Bowel Disease Like Disease-A Case Report Fang, Youhong Luo, Youyou Liu, Yang Chen, Jie Front Genet Genetics Variants in the MSN gene were recently reported as the cause of a primary immunodeficiency disease called X-linked moesin-associated immunodeficiency (X-MAID). Hitherto, only 10 patients were reported worldwide. Here, we report a boy who presented with recurrent high fever, oral ulcers, abdominal pain, and hematochezia for over 2 weeks. His serum inflammatory markers were elevated, and colonoscopy showed multiple colon ulcers and terminal ileum ulcers which resemble colitis caused by inflammatory bowel disease. A novel heterozygous variant c.934G>T(p.Glu312Ter) in the MSN gene was identified using whole exome sequencing (WES) and trio analysis. Intestinal ulcers were almost healed after inducing therapy with steroids and maintenance treatment of anti-TNFα therapy. We summarized the genotype and phenotype of reported X-MAID patients and presented the patient’s unique phenotype in this study. This study also expanded the spectrum of MSN mutation-caused immunodeficiency. Frontiers Media S.A. 2022-06-09 /pmc/articles/PMC9224403/ /pubmed/35754805 http://dx.doi.org/10.3389/fgene.2022.873635 Text en Copyright © 2022 Fang, Luo, Liu and Chen. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Fang, Youhong
Luo, Youyou
Liu, Yang
Chen, Jie
A Novel Variant of X-Linked Moesin Gene in a Boy With Inflammatory Bowel Disease Like Disease-A Case Report
title A Novel Variant of X-Linked Moesin Gene in a Boy With Inflammatory Bowel Disease Like Disease-A Case Report
title_full A Novel Variant of X-Linked Moesin Gene in a Boy With Inflammatory Bowel Disease Like Disease-A Case Report
title_fullStr A Novel Variant of X-Linked Moesin Gene in a Boy With Inflammatory Bowel Disease Like Disease-A Case Report
title_full_unstemmed A Novel Variant of X-Linked Moesin Gene in a Boy With Inflammatory Bowel Disease Like Disease-A Case Report
title_short A Novel Variant of X-Linked Moesin Gene in a Boy With Inflammatory Bowel Disease Like Disease-A Case Report
title_sort novel variant of x-linked moesin gene in a boy with inflammatory bowel disease like disease-a case report
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9224403/
https://www.ncbi.nlm.nih.gov/pubmed/35754805
http://dx.doi.org/10.3389/fgene.2022.873635
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