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11/25/2021 8:04:31 AM | Browse: 49 | Download: 64
Publication Name World Journal of Gastroenterology
Manuscript ID 67926
Country/Territory China
Received
2021-05-31 12:35
Peer-Review Started
2021-05-31 12:39
To Make the First Decision
Return for Revision
2021-07-01 19:38
Revised
2021-07-09 12:31
Second Decision
2021-11-16 03:29
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2021-11-18 06:31
Articles in Press
2021-11-18 06:31
Publication Fee Transferred
Edit the Manuscript by Language Editor
2021-10-28 03:34
Typeset the Manuscript
2021-11-19 02:24
Publish the Manuscript Online
2021-11-25 07:42
ISSN 1007-9327 (print) and 2219-2840 (online)
Open Access This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (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/
Copyright © The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Gastroenterology and Hepatology
Manuscript Type Observational Study
Article Title Autosomal recessive 333 base pair interleukin 10 receptor alpha subunit deletion in very early-onset inflammatory bowel disease
Manuscript Source Invited Manuscript
All Author List Jia-Jia Lv, Wen Su, Xiao-Yan Chen, Yi Yu, Xu Xu, Chun-Di Xu, Xing Deng, Jie-Bin Huang, Xin-Qiong Wang and Yuan Xiao
Funding Agency and Grant Number
Funding Agency Grant Number
National Natural Science Foundation of China 81741103
Corresponding Author Yuan Xiao, MD, PhD, Associate Chief Physician, Deputy Director, Lecturer, Department of Pediatrics, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Ruijin 2nd Road, Shanghai 200025, Shanghai Province, China. xy11438@rjh.com.cn
Key Words Interleukin 10 receptor alpha subunit mutation; Very early-onset inflammatory bowel disease; Whole-genome sequencing; Immunodeficiency; Crohn’s disease; Whole-exon sequencing
Core Tip Children less than 6 years old with very early-onset inflammatory bowel disease (VEO-IBD) exhibit severe and refractory disease phenotypes, which indicate a monogenic type disease. Here, we report four cases clinically diagnosed with VEO Crohn’s disease, of which three were compound heterozygous carriers for a 333-bp deletion and an additional single-nucleotide variant, and one was homozygousfor the 333-bp deletion in IL10RA. Based on these cases with heterozygous pathogenic variants in IL10RA, the possibility of another large fragment deletion that can be missed by whole-exon sequencing or gene panels should be considered, particularly when serum IL-10 is increased in patients with VEO-IBD.
Publish Date 2021-11-25 07:42
Citation Lv JJ, Su W, Chen XY, Yu Y, Xu X, Xu CD, Deng X, Huang JB, Wang XQ, Xiao Y. Autosomal recessive 333 base pair interleukin 10 receptor alpha subunit deletion in very early-onset inflammatory bowel disease. World J Gastroenterol 2021; 27(44): 7705-7715
URL https://www.wjgnet.com/1007-9327/full/v27/i44/7705.htm
DOI https://dx.doi.org/10.3748/wjg.v27.i44.7705
Full Article (PDF) WJG-27-7705.pdf
Full Article (Word) WJG-27-7705.docx
Manuscript File 67926_Auto_Edited-JJ Wang-WangTQ.docx
Answering Reviewers 67926-Answering reviewers.pdf
Audio Core Tip 67926-Audio core tip.mp3
Biostatistics Review Certificate 67926-Biostatistics statement .pdf
Conflict-of-Interest Disclosure Form 67926-Conflict-of-interest statement.pdf
Copyright License Agreement 67926-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 67926-Grant application form(s).pdf
Signed Informed Consent Form(s) or Document(s) 67926-Informed consent statement.pdf
Institutional Review Board Approval Form or Document 67926-Institutional review board statement.pdf
Non-Native Speakers of English Editing Certificate 67926-Language certificate.pdf
Supplementary Material 67926-Supplementary material.pdf
Peer-review Report 67926-Peer-review(s).pdf
Scientific Misconduct Check 67926-Bing-Wang JJ-2.png
Scientific Editor Work List 67926-Scientific editor work list.pdf