Copyright
©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 6, 2020; 8(17): 3859-3866
Published online Sep 6, 2020. doi: 10.12998/wjcc.v8.i17.3859
Published online Sep 6, 2020. doi: 10.12998/wjcc.v8.i17.3859
Novel deletion mutation in Bruton’s tyrosine kinase results in X-linked agammaglobulinemia: A case report
Xiao-Mei Hu, Ke Yuan, Hong Chen, Chun Chen, Yan-Lan Fang, Jian-Fang Zhu, Li Liang, Chun-Lin Wang, Department of Pediatrics, The First Affiliated Hospital of Zhejiang University, Hangzhou 310003, Zhejiang Province, China
Author contributions: Hu XM and Wang CL conceived and designed the study; Yuan K, Hu XM, Chen H, and Fang YL performed the experiments; Chen C and Zhu JF provided clinical research; Hu XM wrote the paper; Hu XM, Yuan K, Liang L and Wang CL reviewed and edited the manuscript; all authors read and approved the manuscript.
Supported by National Natural Science Foundation of China , No. 11571309 ; and the Zhejiang Health Bureau Fund , No. 2016ZHA004 .
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest related to 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: Chun-Lin Wang, PhD, Chief Doctor, Department of Pediatrics, The First Affiliated Hospital of Zhejiang University, No. 79 Qingchun Road, Hangzhou 310003, Zhejiang Province, China. hzwangcl@zju.edu.cn
Received: March 3, 2020
Peer-review started: March 3, 2020
First decision: April 28, 2020
Revised: July 8, 2020
Accepted: July 18, 2020
Article in press: July 18, 2020
Published online: September 6, 2020
Peer-review started: March 3, 2020
First decision: April 28, 2020
Revised: July 8, 2020
Accepted: July 18, 2020
Article in press: July 18, 2020
Published online: September 6, 2020
Core Tip
Core tip: This report introduces the diagnosis and treatment of X-linked agammaglobulinemia caused by a new Bruton’s tyrosine kinase gene mutation, and includes a detailed clinical and laboratory analysis of its pathogenic principle, which provided the diagnosis and led to the treatment of X-linked agammaglobulinemia.