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3/30/2021 8:56:50 AM | Browse: 296 | Download: 657
Publication Name World Journal of Clinical Cases
Manuscript ID 59597
Country China
Received
2020-09-19 06:19
Peer-Review Started
2020-09-19 06:20
To Make the First Decision
Return for Revision
2021-01-07 04:51
Revised
2021-01-19 16:33
Second Decision
2021-01-30 13:08
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2021-02-01 18:33
Articles in Press
2021-02-01 18:33
Publication Fee Transferred
Edit the Manuscript by Language Editor
2021-02-07 18:20
Typeset the Manuscript
2021-03-03 07:43
Publish the Manuscript Online
2021-03-30 08:56
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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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Hematology
Manuscript Type Case Report
Article Title Adult onset type 2 familial hemophagocytic lymphohistiocytosis with PRF1 c.65delC/c.163C>T compound heterozygous mutations: A case report
Manuscript Source Unsolicited Manuscript
All Author List Xin-Yi Liu, Yan-Bo Nie, Xue-Jing Chen, Xiao-Hui Gao, Li-Jia Zhai and Feng-Ling Min
ORCID
Author(s) ORCID Number
Xin-Yi Liu http://orcid.org/0000-0002-7079-8527
Yan-Bo Nie http://orcid.org/0000-0003-3711-0046
Xue-Jing Chen http://orcid.org/0000-0001-5201-4349
Xiao-Hui Gao http://orcid.org/0000-0003-4141-689X
Li-Jia Zhai http://orcid.org/0000-0002-0014-4704
Feng-Ling Min http://orcid.org/0000-0002-6418-5206
Funding Agency and Grant Number
Funding Agency Grant Number
Project of Key Talents of Strengthening Health through Science and Education of Yangzhou City, China ZDRC201813
Corresponding Author Feng-Ling Min, MD, Chief Doctor, Professor, Department of Hematology, Affiliated Hospital of Yangzhou University, Yangzhou University, No. 368 Hanjiang Middle Road, Yangzhou 225000, Jiangsu Province, China. 1014121694@qq.com
Key Words Familial hemophagocytic lymphohistiocytosis; Perforin; PRF1 mutation; Late-onset; Case report
Core Tip In familial hemophagocytic lymphohistiocytosis (FHL), the PRF1: c.163C>T mutation is rare and the clinical features of it have not been reported. We discuss a case of adult onset type 2 FHL with PRF1 c.65delC/c.163C>T compound heterozygous mutations and conduct a predictive analysis of the two mutations’ effects on the function of perforin and onset of the disease.
Publish Date 2021-03-30 08:56
Citation Liu XY, Nie YB, Chen XJ, Gao XH, Zhai LJ, Min FL. Adult onset type 2 familial hemophagocytic lymphohistiocytosis with PRF1 c.65delC/c.163C>T compound heterozygous mutations: A case report. World J Clin Cases 2021; 9(10): 2289-2295
URL https://www.wjgnet.com/2307-8960/full/v9/i10/2289.htm
DOI https://dx.doi.org/10.12998/wjcc.v9.i10.2289
Full Article (PDF) WJCC-9-2289.pdf
Full Article (Word) WJCC-9-2289.docx
CARE Checklist–2016 59597-CARE-Checklist–2016-revision.pdf
Manuscript File 59597-Review-FilipodiaCL.docx
Answering Reviewers 59597-Answering reviewers.pdf
Audio Core Tip 59597-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 59597-Conflict-of-interest statement.pdf
Copyright License Agreement 59597-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 59597-Grant application form(s).pdf
Signed Informed Consent Form(s) or Document(s) 59597-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 59597-Language certificate.pdf
Peer-review Report 59597-Peer-review(s).pdf
Scientific Misconduct Check 59597-Bing-Wang JL-1.jpg
Scientific Misconduct Check 59597-Scientific misconduct check.pdf
Scientific Editor Work List 59597-Scientific editor work list.pdf