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©The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Dec 28, 2017; 23(48): 8544-8552
Published online Dec 28, 2017. doi: 10.3748/wjg.v23.i48.8544
Published online Dec 28, 2017. doi: 10.3748/wjg.v23.i48.8544
Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene
Takashi Ohya, Masakatsu Yanagimachi, Shuichi Ito, Department of Pediatrics, Yokohama City University, Yokohama, Kanagawa 236-004, Japan
Masakatsu Yanagimachi, Department of Pediatrics, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8519, Japan
Kentaro Iwasawa, Shuichiro Umetsu, Tsuyoshi Sogo, Ayano Inui, Tomoo Fujisawa, Department of Pediatric Hepatology and Gastroenterology, Saiseikai Yokohama-shi Tobu Hostopital, Turumi-ku, Yokohama, Kanagawa 230-0012, Japan
Author contributions: Ohya T, Yanagimachi M and Ito S designed the research; Ohya T, Iwasawa K, Umetsu S, Sogo T, Inui A and Fujisawa T performed the research; Ohya T and Yanagimachi M analyzed the data; and Ohya T wrote the paper.
Institutional review board statement: The study was reviewed and approved by the Ethics Committees of the Yokohama City University School of Medicine and Saiseikai Yokohama-shi Tobu Hospital (number: A140724004).
Informed consent statement: All study participants, or their legal guardians, provided written informed consent prior to study enrollment.
Conflict-of-interest statement: All authors have no conflict of interest.
Data sharing statement: No additional data are available.
Open-Access: 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. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Masakatsu Yanagimachi, MD, PhD, Assistant Professor, Department of Pediatrics, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan. myanagimachi.ped@tmd.ac.jp
Telephone: +81-3-58035249 Fax: +81-3-58035246
Received: October 31, 2017
Peer-review started: November 1, 2017
First decision: November 14, 2017
Revised: November 21, 2017
Accepted: November 27, 2017
Article in press: November 27, 2017
Published online: December 28, 2017
Processing time: 57 Days and 3.5 Hours
Peer-review started: November 1, 2017
First decision: November 14, 2017
Revised: November 21, 2017
Accepted: November 27, 2017
Article in press: November 27, 2017
Published online: December 28, 2017
Processing time: 57 Days and 3.5 Hours
Core Tip
Core tip: Inflammatory bowel disease (IBD) has multiple etiologies, including genetic and environmental factors. Recent reports have described how some children with Wiskott-Aldrich syndrome (WAS) present IBD or IBD-like gastroenterocolitis. In this study, we found a WAS c.1378C>T, p.Pro460Ser mutation in three children with IBD. These patients did not present typical symptoms of WAS, such as thrombocytopenia and recurrent infection. However, WAS is known to be associated with an increased risk of malignancies including lymphoma, as well as autoimmune diseases. Therefore, in any long-term follow-up, the analysis of WASP expression in children with IBD should be considered even if major symptoms of WAS are absent.