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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Baishideng Publishing Group Inc
2017
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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. |
format | Online Article Text |
id | pubmed-5752714 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Baishideng Publishing Group Inc |
record_format | MEDLINE/PubMed |
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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