2023 年第 10 期 第 18 卷

基因突变致X-连锁重症联合免疫缺陷病1例并文献复习

A case of X-linked severe combined immunodeficiency caused by gene mutation and literature review

作者：吴杰朱晓萍

英文作者：Wu Jie Zhu Xiaoping

单位：贵州医科大学附属医院儿科，贵阳550004

英文单位：Department of Pediatrics the Affiliated Hospital of Guizhou Medical University Guiyang 550004 China

关键词：重症联合免疫缺陷病；白细胞介素2受体共同γ链基因突变；免疫重建

英文关键词：Severecombinedimmunodeficiencydisease;Interleukin-2receptorcommongammachaingenemutation;Immunologicalreconstitution

• 摘要：

• 重症联合免疫缺陷病（SCID）是一组以T细胞发育和功能严重破坏为特征、可导致机体发生免疫缺陷的疾病。X-连锁SCID (X-SCID)是SCID最常见的一种形式，占全部病例的50%～60%。X-SCID患儿发病早期无典型表现，若诊治不及时预后较差。本文回顾性分析贵州医科大学附属医院收治的1例X-SCID患儿的临床资料并复习相关文献，总结白细胞介素2受体共同γ链基因突变所致X-SCID的临床特征及诊疗重点供临床参考。同时也希望临床医师深入认识并掌握该疾病相关特点，对可疑患者尽早进行基因检测明确诊断并行免疫重建治疗，以提高其生存率、改善预后。

• Severe combined immunodeficiency disease(SCID) is a group of diseases characterized by severe disruption of T cell development and function, which can lead to immune deficiency in the body. X-linked SCID(X-SCID) is the most common form of SCID, accounting for 50% to 60% of all cases. There are no typical manifestations in the early stage of X-SCID, and the prognosis is poor if the diagnosis and treatment are not timely. In this paper, the clinical data of a child with X-SCID admitted to the Affiliated Hospital of Guizhou Medical University were retrospectively analyzed, and relevant literatures were reviewed. The clinical characteristics and diagnosis and treatment of X-SCID caused by interleukin-2 receptor common gamma chain gene mutation were summarized for clinical reference. At the same time, it is also hoped that clinicians can deeply understand and master the relevant characteristics of this disease, and carry out gene detection to definite diagnosis of suspicious patients as soon as possible, and carry out immunological reconstitution treatment to improve their survival rate and prognosis.