Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 6, 2020; 8(23): 6130-6135
Published online Dec 6, 2020. doi: 10.12998/wjcc.v8.i23.6130
Hemophagocytic lymphohistiocytosis caused by STAT1 gain-of-function mutation is not driven by interferon-γ: A case report
Nan Liu, Fen-Ying Zhao, Xiao-Jun Xu
Nan Liu, Fen-Ying Zhao, Xiao-Jun Xu, Department of Hematology-oncology, Children’s Hospital, Zhejiang University School of Medicine, Hangzhou 310003, Zhejiang Province, China
Author contributions: Xu XJ was the principal investigator and takes primary responsibility for the manuscript; Liu N and Zhao FY analyzed and interpreted the patient data and wrote the manuscript draft which was amended by Xu XJ; all authors read and approved the final version of the manuscript.
Informed consent statement: Written informed consent was obtained from the patient’s guardian for publication of this case report and accompanying images.
Conflict-of-interest statement: The authors declare that they have no competing interests.
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: Xiao-Jun Xu, MD, Chief Doctor, Department of Hematology-oncology, Children’s Hospital, Zhejiang University School of Medicine, No. 57 Zhuganxiang Road, Yan-an Street, Hangzhou 310003, Zhejiang Province, China. xuxiaojun@zju.edu.cn
Received: June 28, 2020
Peer-review started: June 28, 2020
First decision: September 29, 2020
Revised: October 13, 2020
Accepted: October 27, 2020
Article in press: October 27, 2020
Published online: December 6, 2020
Processing time: 159 Days and 7.4 Hours
Core Tip

Core Tip: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome caused by many genetic defects. Cytokine storm is frequent and interferon (IFN)-γ is considered to play a key role. We present a case of HLH caused by STAT1 gain-of-function (GOF) mutation. The cytokine profile showed moderately elevated interleukin (IL)-6 and IL-10 and normal IFN-γ. In STAT1 GOF mutation, although inhibition of IL-12R/IL-23R signaling leads to diminished T helper (Th) 1/Th17 and IL-12 response, which then prevent a cytokine storm, overactivity of phagocytic cells due to hyperphosphorylation of STAT1 can lead to HLH.