| 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
|
| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
|
| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Gastroenterology & 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 |
| ORCID |
|
| 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, 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 |
