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Publication Name World Journal of Clinical Cases
Manuscript ID 54243
Country/Territory China
Received
2020-01-22 05:31
Peer-Review Started
2020-01-16 09:37
To Make the First Decision
Return for Revision
2020-03-05 23:42
Revised
2020-04-01 13:19
Second Decision
2020-04-20 12:25
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2020-04-20 17:40
Articles in Press
2020-04-20 17:40
Publication Fee Transferred
Edit the Manuscript by Language Editor
2020-04-23 01:14
Typeset the Manuscript
2020-05-19 15:52
Publish the Manuscript Online
2020-05-25 09:57
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.
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 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
Manuscript Source Unsolicited Manuscript
All Author List Na Su, Cheng Chen, Xia Zhou, Guo-Da Ma, Ri-Ling Chen and Chuan Tian
ORCID
Author(s) ORCID Number
Na Su http://orcid.org/0000-0002-3824-345X
Cheng Chen http://orcid.org/0000-0003-4676-2919
Xia Zhou http://orcid.org/0000-0003-3798-4552
Guo-Da Ma http://orcid.org/0000-0001-8962-6007
Ri-Ling Chen http://orcid.org/0000-0001-5988-032X
Chuan Tian http://orcid.org/0000-0002-0635-8666
Funding Agency and Grant Number
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
Full Article (PDF) WJCC-8-1988.pdf
Full Article (Word) WJCC-8-1988.docx
Manuscript File 54243-Review_WangTQ.docx
Answering Reviewers 54243-Answering reviewers.pdf
Audio Core Tip 54243-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 54243-Conflict-of-interest statement.pdf
Copyright License Agreement 54243-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 54243-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 54243-Language certificate.pdf
Peer-review Report 54243-Peer-review(s).pdf
Scientific Misconduct Check 54243-Scientific misconduct check.pdf
Scientific Editor Work List 54243-Scientific editor work list.pdf