CASE REPORT article
Front. Immunol.
Sec. Primary Immunodeficiencies
Volume 16 - 2025 | doi: 10.3389/fimmu.2025.1645337
Fatal X-Linked Agammaglobulinemia Complicated by Septic Shock: A Case Report and Comprehensive Review of Novel BTK Mutations
Provisionally accepted
- 1School of Basic Medicine, Hubei University of Arts and Science, Xiangyang, China
- 2Center for Neurological Disease Research, Taihe Hospital, Shiyan, China
- 3Department of Gerontology, China Resources and WISCO General Hospital, Wuhan, China
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X-linked agammaglobulinemia (XLA) is a rare primary immunodeficiency disorder caused by mutations in the Bruton tyrosine kinase (BTK) gene. This article presents a fatal case of a 20-year-old male with XLA complicated by septic shock due to Pseudomonas aeruginosa infection, highlighting two novel BTK insertion mutations in exon 15 (NM_000061.3 exon15:c.1561insG and c.1565insTAGAA).Concurrently, we provide a systematic review of XLA's genetic basis, clinical manifestations, diagnostic challenges, and therapeutic advancements. The patient's delayed diagnosis, lack of immunoglobulin replacement therapy, and fatal outcome underscore the importance of early genetic screening and standardized management.This case and review aim to enhance clinical awareness and emphasize the integration of genetic diagnostics into routine practice for primary immunodeficiencies.
Keywords: case report, BTK mutations, septic shock, Delayed Diagnosis, Primary immunodeficiency
Received: 12 Jun 2025; Accepted: 30 Jul 2025.
Copyright: © 2025 Liu, Luo, Jiayue, Wei and Wu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Piaopiao Wu, Department of Gerontology, China Resources and WISCO General Hospital, Wuhan, China
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