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7/21/2021 8:24:11 AM | Browse: 11 | Download: 15
Publication Name World Journal of Clinical Cases
Manuscript ID 65539
Country/Territory China
2021-03-14 14:28
Peer-Review Started
2021-03-14 14:29
To Make the First Decision
Return for Revision
2021-03-27 05:10
2021-04-06 06:26
Second Decision
2021-05-14 13:42
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2021-05-15 04:49
Articles in Press
2021-05-15 04:49
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Edit the Manuscript by Language Editor
2021-05-24 01:51
Typeset the Manuscript
2021-07-12 16:59
Publish the Manuscript Online
2021-07-21 08:24
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
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 Genetics and Heredity
Manuscript Type Case Report
Article Title Familial hemophagocytic lymphohistiocytosis type 2 in Chinese population: A case report and review of literature
Manuscript Source Unsolicited Manuscript
All Author List Shao-Hua Bi, Liang-Liang Jiang, Li-Ying Dai, Li-Li Wang, Guang-Hui Liu and Ru-Jeng Teng
Author(s) ORCID Number
Shao-Hua Bi http://orcid.org/0000-0001-5844-3072
Liang-Liang Jiang http://orcid.org/0000-0001-7624-0439
Li-Ying Dai http://orcid.org/0000-0003-3914-9155
Li-Li Wang http://orcid.org/0000-0002-1134-0559
Guang-Hui Liu http://orcid.org/0000-0002-1682-6187
Ru-Jeng Teng http://orcid.org/0000-0003-4321-2452
Funding Agency and Grant Number
Corresponding Author Li-Li Wang, MD, Chief Doctor, Division of Neonatology, Department of Pediatrics, First Affiliated Hospital of Anhui Medical University, No. 218 Jixi Road, Shushan District, Hefei 230022, Anhui Province, China. wllwywz@163.com
Key Words Hemophagocytic lymphohistiocytosis; Familial hemophagocytic lymphohistiocytosis; Perforin-1; Neonate; Compound heterozygous; Case report
Core Tip We report a case of a newborn infant with familial hemophagocytic lymphohistiocytosis who had clinical manifestations by the age of 7 d. The genetic test revealed compound heterozygous mutation of c.658G>C (p.Gly220Arg) and c.1066C>T (p.Arg356Trp). The two mutations carried by the index cases were not commonly seen variants in Chinese PRF1 mutations. The clinical manifestation of our case strongly suggests c.658G>C (p.Gly220Arg) is also a pathogenic variant.
Publish Date 2021-07-21 08:24
Citation Bi SH, Jiang LL, Dai LY, Wang LL, Liu GH, Teng RJ. Familial hemophagocytic lymphohistiocytosis type 2 in Chinese population: A case report and review of literature. World J Clin Cases 2021; 9(21): 6056-6066
URL https://www.wjgnet.com/2307-8960/full/v9/i21/6056.htm
DOI https://dx.doi.org/10.12998/wjcc.v9.i21.6056
Full Article (PDF) WJCC-9-6056.pdf
Full Article (Word) WJCC-9-6056.docx
Manuscript File 65539_Auto_Edited_WangTQ.docx
Answering Reviewers 65539-Answering reviewers.pdf
Audio Core Tip 65539-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 65539-Conflict-of-interest statement.pdf
Copyright License Agreement 65539-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 65539-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 65539-Language certificate.pdf
Peer-review Report 65539-Peer-review(s).pdf
Scientific Misconduct Check 65539-Bing-Liu M-1.png
Scientific Misconduct Check 65539-Scientific misconduct check.pdf
Scientific Misconduct Check 65539-CrossCheck.png
Scientific Misconduct Check 65539-Bing-Gong ZM-2.png
Scientific Editor Work List 65539-Scientific editor work list.pdf