| ISSN |
2307-8960 (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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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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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 |
Immunology |
| Manuscript Type |
Case Report |
| Article Title |
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome in a Chinese family: A case report and review of literature
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Ling-Yun Lu, Xue-Yang Tang, Guo-Jing Luo, Meng-Jia Tang, Yi Liu and Xi-Jie Yu |
| ORCID |
|
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| National Natural Science Foundation of China |
81770875 |
| Post-Doctor Research Project, West China Hospital, Sichuan University |
19HXBH053 |
| Health and Family Planning Commission of Sichuan Province |
19PJ096 |
| 1.3.5 Project for Disciplines of Excellence, West China Hospital, Sichuan University |
2020HXFH008 |
| 1.3.5 Project for Disciplines of Excellence, West China Hospital, Sichuan University |
ZYJC18003 |
|
| Corresponding Author |
Xi-Jie Yu, MD, PhD, Professor, Department of Endocrinology, Laboratory of Endocrinology and Metabolism, West China Hospital, Sichuan University, No. 37 Guoxue Xiang, Chengdu 610041, Sichuan, China. xijieyu@hotmail.com |
| Key Words |
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome; PSTPIP1; Autoinflammatory disease; Rare disease; Case report |
| Core Tip |
Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome (OMIM 604416) is a rare autosomal dominant genetic disease characterized by severe autoimmune inflammation. Herein, we reported a case of a Chinese boy diagnosed with PAPA syndrome due to an E250Q mutation in the PSTPIP1 gene, and summarized the clinical characteristics, potential mechanisms and relatively effective treatments from previous literature in order to provide some useful information for a comprehensive understanding of this rare disease. |
| Publish Date |
2021-07-28 01:52 |
| Citation |
Lu LY, Tang XY, Luo GJ, Tang MJ, Liu Y, Yu XJ. Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome in a Chinese family: A case report and review of literature. World J Clin Cases 2021; 9(22): 6393-6402 |
| URL |
https://www.wjgnet.com/2307-8960/full/v9/i22/6393.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v9.i22.6393 |
