Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 26, 2021; 9(21): 6056-6066
Published online Jul 26, 2021. doi: 10.12998/wjcc.v9.i21.6056
Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature
Shao-Hua Bi, Liang-Liang Jiang, Li-Ying Dai, Li-Li Wang, Guang-Hui Liu, Ru-Jeng Teng
Shao-Hua Bi, Li-Li Wang, Division of Neonatology, Department of Pediatrics, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, Anhui Province, China
Shao-Hua Bi, Li-Ying Dai, Guang-Hui Liu, Department of Neonatology, Anhui Provincial Children's Hospital, Hefei 230022, Anhui Province, China
Liang-Liang Jiang, Department of Pediatric Neurology, Anhui Provincial Children's Hospital, Hefei 230022, Anhui Province, China
Ru-Jeng Teng, Department of Pediatrics, Medical College of Wisconsin, Wauwatosa, WI 53226, United States
Author contributions: Bi SH and Dai LY contributed to conceptualization; Bi SH and Jiang LL contributed to the data curation; Bi SH and Liu GH contributed to the investigation; Bi SH wrote the original draft; Bi SH, Wang LL, and Teng RJ reviewed and edited the manuscript.
Informed consent statement: Informed written consent was obtained from the patient’s parents for publication of this report and any accompanying images.
Conflict-of-interest statement: All authors declare no conflict of interest for this manuscript.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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/
Corresponding author: Li-Li Wang, MD, Chief Doctor, Division of Neonatology, Department of Pediatrics, The First Affiliated Hospital of Anhui Medical University, No. 218 Jixi Road, Shushan District, Hefei 230022, Anhui Province, China. wllwywz@163.com
Received: March 14, 2021
Peer-review started: March 14, 2021
First decision: March 27, 2021
Revised: April 6, 2021
Accepted: May 15, 2021
Article in press: May 15, 2021
Published online: July 26, 2021
Processing time: 128 Days and 17.9 Hours
Core Tip

Core Tip: We report the case of a newborn infant with familial hemophagocytic lymphohistiocytosis who had clinical manifestations by the age of 7 d. The genetic test revealed a 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 that c.658G>C (p.Gly220Arg) is also a pathogenic variant.