Wu Piaopiao, You Wei, Liu Wentong, Luo Ni, Xu Jiayue
Department of Gerontology, CR & WISCO General Hospital Affiliated to Wuhan University of Science and T echnology, Wuhan, Hubei, China.
School of Basic Medicine, Hubei University of Arts and Science, Xiangyang, China.
Front Immunol. 2025 Aug 15;16:1645337. doi: 10.3389/fimmu.2025.1645337. eCollection 2025.
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 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.
X连锁无丙种球蛋白血症（XLA）是一种罕见的原发性免疫缺陷疾病，由布鲁顿酪氨酸激酶（BTK）基因突变引起。本文介绍了一名20岁男性XLA患者的致命病例，该患者因感染并发感染性休克，突出了外显子15中的两个新的BTK插入突变（NM_000061.3外显子15：c.1561insG和c.1565insTAGAA）。同时，我们对XLA的遗传基础、临床表现、诊断挑战和治疗进展进行了系统综述。患者的延迟诊断、缺乏免疫球蛋白替代治疗以及致命结局强调了早期基因筛查和标准化管理的重要性。本病例及综述旨在提高临床认识，并强调将基因诊断纳入原发性免疫缺陷的常规实践。
