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Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene

AIM: To screen primary immunodeficiency, Wiskott-Aldrich syndrome (WAS), and chronic granulomatous disease (CGD) among children with inflammatory bowel disease (IBD). METHODS: This was a single-center retrospective study. Eighteen children with IBD were investigated. We analyzed their expression of...

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Autores principales: Ohya, Takashi, Yanagimachi, Masakatsu, Iwasawa, Kentaro, Umetsu, Shuichiro, Sogo, Tsuyoshi, Inui, Ayano, Fujisawa, Tomoo, Ito, Shuichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752714/
https://www.ncbi.nlm.nih.gov/pubmed/29358862
http://dx.doi.org/10.3748/wjg.v23.i48.8544
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author Ohya, Takashi
Yanagimachi, Masakatsu
Iwasawa, Kentaro
Umetsu, Shuichiro
Sogo, Tsuyoshi
Inui, Ayano
Fujisawa, Tomoo
Ito, Shuichi
author_facet Ohya, Takashi
Yanagimachi, Masakatsu
Iwasawa, Kentaro
Umetsu, Shuichiro
Sogo, Tsuyoshi
Inui, Ayano
Fujisawa, Tomoo
Ito, Shuichi
author_sort Ohya, Takashi
collection PubMed
description AIM: To screen primary immunodeficiency, Wiskott-Aldrich syndrome (WAS), and chronic granulomatous disease (CGD) among children with inflammatory bowel disease (IBD). METHODS: This was a single-center retrospective study. Eighteen children with IBD were investigated. We analyzed their expression of Wiskott-Aldrich syndrome protein (WASP) in lymphocytes and superoxide generation in phagocytes using flow cytometry. When the expression of WASP or superoxide generation was low or absent, we performed genetic analysis to determine the cause of this. RESULTS: Eighteen patients were classified as having ulcerative colitis (n = 10), Crohn’s disease (n = 5), or IBD-unclassified (n = 3). In total, three patients revealed low expression of WASP associated with a WAS gene c.1378 C>T p.Pro460Ser mutation, which has previously been reported as a pathogenic mutation in WAS and X-linked thrombocytopenia. However, with respect to the major symptoms of WAS, none of these three patients showed either thrombocytopenia or increased susceptibility to infection, but one patient showed generalized eczema. No CGD patients were discovered in this study. CONCLUSION: Despite the lack of typical clinical manifestations of WAS, low expression of WASP could be associated with the pathogenesis of a subtype of IBD patients.
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spelling pubmed-57527142018-01-22 Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene Ohya, Takashi Yanagimachi, Masakatsu Iwasawa, Kentaro Umetsu, Shuichiro Sogo, Tsuyoshi Inui, Ayano Fujisawa, Tomoo Ito, Shuichi World J Gastroenterol Retrospective Study AIM: To screen primary immunodeficiency, Wiskott-Aldrich syndrome (WAS), and chronic granulomatous disease (CGD) among children with inflammatory bowel disease (IBD). METHODS: This was a single-center retrospective study. Eighteen children with IBD were investigated. We analyzed their expression of Wiskott-Aldrich syndrome protein (WASP) in lymphocytes and superoxide generation in phagocytes using flow cytometry. When the expression of WASP or superoxide generation was low or absent, we performed genetic analysis to determine the cause of this. RESULTS: Eighteen patients were classified as having ulcerative colitis (n = 10), Crohn’s disease (n = 5), or IBD-unclassified (n = 3). In total, three patients revealed low expression of WASP associated with a WAS gene c.1378 C>T p.Pro460Ser mutation, which has previously been reported as a pathogenic mutation in WAS and X-linked thrombocytopenia. However, with respect to the major symptoms of WAS, none of these three patients showed either thrombocytopenia or increased susceptibility to infection, but one patient showed generalized eczema. No CGD patients were discovered in this study. CONCLUSION: Despite the lack of typical clinical manifestations of WAS, low expression of WASP could be associated with the pathogenesis of a subtype of IBD patients. Baishideng Publishing Group Inc 2017-12-28 2017-12-28 /pmc/articles/PMC5752714/ /pubmed/29358862 http://dx.doi.org/10.3748/wjg.v23.i48.8544 Text en ©The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved. http://creativecommons.org/licenses/by-nc/4.0/ This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial.
spellingShingle Retrospective Study
Ohya, Takashi
Yanagimachi, Masakatsu
Iwasawa, Kentaro
Umetsu, Shuichiro
Sogo, Tsuyoshi
Inui, Ayano
Fujisawa, Tomoo
Ito, Shuichi
Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene
title Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene
title_full Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene
title_fullStr Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene
title_full_unstemmed Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene
title_short Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene
title_sort childhood-onset inflammatory bowel diseases associated with mutation of wiskott-aldrich syndrome protein gene
topic Retrospective Study
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752714/
https://www.ncbi.nlm.nih.gov/pubmed/29358862
http://dx.doi.org/10.3748/wjg.v23.i48.8544
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