Observational Study
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Nov 28, 2021; 27(44): 7705-7715
Published online Nov 28, 2021. doi: 10.3748/wjg.v27.i44.7705
Autosomal recessive 333 base pair interleukin 10 receptor alpha subunit deletion in very early-onset inflammatory bowel disease
Jia-Jia Lv, Wen Su, Xiao-Yan Chen, Yi Yu, Xu Xu, Chun-Di Xu, Xing Deng, Jie-Bin Huang, Xin-Qiong Wang, Yuan Xiao
Jia-Jia Lv, Wen Su, Yi Yu, Xu Xu, Chun-Di Xu, Xing Deng, Jie-Bin Huang, Xin-Qiong Wang, Yuan Xiao, Department of Pediatrics, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, Shanghai Province, China
Xiao-Yan Chen, Department of Pathology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, Shanghai Province, China
Author contributions: Lv JJ and Su W contributed equally to this work; Lv JJ and Su W performed the experiments, data acquisition, analysis and interpretation, and drafting of the article; Chen XY, Yu Y, Xu X, Xu CD, Deng X, and Huang JB analyzed the data and critically revised the article; Wang XQ and Xiao Y designed the project and critically revised the article for important intellectual content; and all authors have read and approved the final manuscript.
Supported by the National Natural Science Foundation of China, No. 81741103.
Institutional review board statement: The study was reviewed and approved by the Ethics Committee of Ruijin Hospital (Shanghai).
Informed consent statement: All study participants or their legal guardians provided informed consent prior to study enrollment.
Conflict-of-interest statement: There are no conflicts of interest to declare.
Data sharing statement: No additional data are available.
STROBE statement: The authors have read the STROBE Statement-checklist of items, and the manuscript was prepared and revised according to the STROBE Statement checklist of items.
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/
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
Received: May 31, 2021
Peer-review started: May 31, 2021
First decision: July 1, 2021
Revised: July 9, 2021
Accepted: November 9, 2021
Article in press: November 9, 2021
Published online: November 28, 2021
Processing time: 177 Days and 19.1 Hours
Core Tip

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 homozygous for 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.