| 摘要: |
| 目的:报道并探讨BTK 基因新发突变所致1 例X-连锁无丙种球蛋白血症(XLA)的临床特征、基因突变位点及诊疗经验。
方法:对2024 年3 月贵阳市妇幼保健院收治的1 例XLA 患儿的临床表现、辅助检查及基因结果进行回顾性分析,并行相关文献
复习。结果:患儿,男,4 岁2 个月,既往有反复感染病史,此次因“发热、咳嗽”入院。免疫功能筛查:免疫球蛋白(Ig)A 0. 03 g/ L,
IgG 0. 21 g/ L,IgM 0. 11 g/ L,CD19+ B 细胞0. 06%。基因测序:BTK 基因有1 个半合子突变,c. 882_889del(p. Leu295ArgfsTer25),
患儿父母该位点均无突变,文献数据库无该位点的相关报道,为新发突变。结论:对既往有反复感染病史的患者可进行免疫功
能筛查,免疫功能缺陷者行基因检测可辅助诊断,该例突变扩大了XLA 患者的基因突变谱。 |
| 关键词: 原发性免疫缺陷病 X-连锁无丙种球蛋白血症 BTK 基因 基因突变 |
| DOI：10.13407/j.cnki.jpp.1672-108X.2025.06.008 |
|
| 基金项目:国家自然科学基金项目,编号82260149。 |
|
| X-Linked Agammaglobulinemia Induced by Novel Mutation of BTK Gene: a Case Report and Literature Review |
| Chen Ting1, Jiang Xinhui2, Shao Xiaoshan1,2 |
| (1. School of Clinical Medicine, Guizhou Medical University, Guiyang 550000,
China; 2. Guiyang Maternal and Child Health Hospital, Guiyang 550000, China) |
| Abstract: |
| Objective: To report and explore the clinical characteristics, gene mutation sites, diagnosis and treatment of X-linked
agammaglobulinemia (XLA) induced by novel mutation of BTK gene. Methods: The clinical manifestation, auxiliary examination and
gene detection results of a child with XLA admitted into Guiyang Maternal and Child Health Hospital in Mar. 2024 were analyzed
retrospectively, and the related literature was reviewed. Results: A 4-year-old boy with a history of recurrent infection was admitted into
the hospital with fever and cough. Immune function screening showed immunoglobulin A (IgA) was 0. 03 g/ L, IgG was 0. 21 g/ L, IgM
was 0. 11 g/ L, and CD19+ B% was 0. 06%. Gene sequencing showed that there was a hemizygous mutation in BTK gene, c. 882_889del
(p. Leu295ArgfsTer25). Neither of the parents of the child had any mutation at this site. There were no relevant reports on this site in
the literature database, and it was a novel mutation. Conclusion: Immune function screening can be done for patients with previous
repeated infection history, gene detection for immunodeficient patients can help to diagnose, this mutation enlarges the gene mutation
prevalence of XLA patients. |
| Key words: primary immunodeficiency disease X-linked agammaglobulinemia BTK gene gene mutation |
