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) 2020. Published by Baishideng Publishing Group Inc. All rights reserved. |
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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 |
Pediatrics |
Manuscript Type |
Case Report |
Article Title |
Early-onset refractory diarrhea due to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with a novel mutation in the FOXP3 gene: A case report
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Manuscript Source |
Unsolicited Manuscript |
All Author List |
Na Su, Cheng Chen, Xia Zhou, Guo-Da Ma, Ri-Ling Chen and Chuan Tian |
ORCID |
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Funding Agency and Grant Number |
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Corresponding Author |
Ri-Ling Chen, MD, Professor, Department of Child Internal Medicine, Shunde Women and Children's Hospital, Guangdong Medical University, No. 3 Baojian Road, Foshan 528300, Guangdong Province, China. chenrl319@163.com |
Key Words |
Immune dysregulation, polyendocrinopthy, enteropathy, X-linked syndrome; Forkhead box protein 3; Mutation; Refractory diarrhea; Regulatory T cells; Case report |
Core Tip |
Immune dysregulation, polyendocrinopthy, enteropathy, X-linked syndrome is a rare X-linked recessive disease caused by mutations in the forkhead box protein 3 (FOXP3) gene. Patients most commonly present symptoms with refractory diarrhea, type 1 diabetes mellitus, and eczema, and rarely, symptoms of nephrotic syndrome, hypothyroidism, and thrombocytopenia. Herein, we present the patient with refractory diarrhea, failure to thrive, hypothyroidism and nephrotic syndrome who was subsequently found to have a novel mutation in the FOXP3 gene [c.542G>A (p.Ser181Asn)]. Patients with immune dysregulation, polyendocrinopthy, enteropathy, X-linked generally require supportive treatments and replacement therapy, such as steroids, immunosuppressors, or hematopoietic stem cell transplantation. |
Publish Date |
2020-05-25 09:57 |
Citation |
Su N, Chen C, Zhou X, Ma GD, Chen RL, Tian C. Early-onset refractory diarrhea due to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with a novel mutation in the FOXP3 gene: A case report. World J Clin Cases 2020; 8(10): 1988-1994 |
URL |
https://www.wjgnet.com/2307-8960/full/v8/i10/1988.htm |
DOI |
https://dx.doi.org/10.12998/wjcc.v8.i10.1988 |