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Articles Published Processes
7/21/2021 8:24:11 AM | Browse: 399 | Download: 1074
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Received |
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2021-03-14 14:28 |
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Peer-Review Started |
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2021-03-14 14:29 |
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To Make the First Decision |
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Return for Revision |
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2021-03-27 05:10 |
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Revised |
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2021-04-06 06:26 |
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Second Decision |
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2021-05-14 13:42 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2021-05-15 04:49 |
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Articles in Press |
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2021-05-15 04:49 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2021-05-24 01:51 |
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Typeset the Manuscript |
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2021-07-12 16:59 |
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Publish the Manuscript Online |
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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
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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 |
Genetics & Heredity |
| Manuscript Type |
Case Report |
| Article Title |
Familial hemophagocytic lymphohistiocytosis type 2 in Chinese population: A case report and review of literature
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| 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 |
| ORCID |
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| Funding Agency and Grant Number |
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| 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 |
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