Copyright
©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 6, 2021; 9(10): 2289-2295
Published online Apr 6, 2021. doi: 10.12998/wjcc.v9.i10.2289
Published online Apr 6, 2021. doi: 10.12998/wjcc.v9.i10.2289
Adult onset type 2 familial hemophagocytic lymphohistiocytosis with PRF1 c.65delC/c.163C>T compound heterozygous mutations: A case report
Xin-Yi Liu, Xiao-Hui Gao, Li-Jia Zhai, Feng-Ling Min, Department of Hematology, The Affiliated Hospital of Yangzhou University, Yangzhou University, Yangzhou 225000, Jiangsu Province, China
Yan-Bo Nie, Gene Sequencing Laboratory, Tianjin SINO-US-Diagnostics Co.Ltd, Tianjin 300000, China
Xue-Jing Chen, Flow Cytometry Laboratory, Tianjin SINO-US-Diagnostics Co.Ltd, Tianjin 300000, China
Author contributions: Liu XY and Min FL conceived and designed the study; Gao XH and Zhai LJ provided the tissue samples and supplied the clinical and pathological information of the patient; Nie YB performed data analysis of Sanger sequences and next-generation sequencing; Chen XJ performed flow cytometry analysis; Liu XY, Min FL, and Nie YB drafted and revised the manuscript; All authors read and approved the final manuscript.
Supported by the Project of Key Talents of Strengthening Health through Science and Education of Yangzhou City , China, No. ZDRC201813.
Informed consent statement: The patient and his parents provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All the authors declare that they have no conflicting interests (including but not limited to commercial, personal, political, intellectual or religious interests) that are related to the work submitted for consideration of publication.
CARE Checklist (2016) statement: The guidelines of the “CARE Checklist-2016: Information for writing a case report” have been adopted.
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: Feng-Ling Min, MD, Chief Doctor, Professor, Department of Hematology, The Affiliated Hospital of Yangzhou University, Yangzhou University, No. 368 Hanjiang Middle Road, Yangzhou 225000, Jiangsu Province, China. 1014121694@qq.com
Received: September 19, 2020
Peer-review started: September 19, 2020
First decision: January 7, 2021
Revised: January 19, 2021
Accepted: February 1, 2021
Article in press: February 1, 2021
Published online: April 6, 2021
Peer-review started: September 19, 2020
First decision: January 7, 2021
Revised: January 19, 2021
Accepted: February 1, 2021
Article in press: February 1, 2021
Published online: April 6, 2021
Core Tip
Core Tip: In familial hemophagocytic lymphohistiocytosis (FHL), the perforin (PRF1): c.163C>T mutation is rare and the clinical features 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 effects of the two mutations on PRF1 function and disease onset.