7例原发性免疫缺陷病的临床及基因突变分析

探讨原发性免疫缺陷病的临床特点及其致病基因突变特点。7例患儿均为男性，年龄5个月至4岁6个月，均有反复呼吸道感染、肺炎病史，免疫球蛋白IgG及IgM水平低下，淋巴细胞亚群的绝对值或比例异常。高通量测序发现病例1的BTK基因存在c.1684C > T突变，病例2的BTK基因存在IVS8+2T > C剪接位点突变，两个突变均遗传自患儿母亲。病例3~5存在IL2RG基因突变，分别为c.298C > T、IVS3-2A > G以及c.164T > A突变，其中c.164T > A突变未见报道。病例6的RAG2基因存在c.204C > G突变，病例7的RAG2基因存在c.913C > T以及c.824G > A复杂杂合突变，分别遗传自父母。原发性免疫缺陷病患者存在免疫学指标异常，高通量测序有助于确诊。

Clinical features and gene mutations of primary immunodeficiency disease: an analysis of 7 cases

This research investigated the clinical features of immunodeficiency disease and the features of the mutation of its pathogenic genes. All 7 patients were boys aged 5 months to 4 years and 6 months and had a history of recurrent respiratory infection and pneumonia, low levels of IgM and IgG, and abnormal absolute values or percentages of lymphocyte subsets. High-throughput sequencing showed c.1684C > T mutations in the BTK gene in patient 1 and IVS8+2T > C splice site mutations in the BTK gene in patient 2. Both of these mutations came from their mothers. Patients 3, 4, and 5 had mutations in the IL2RG gene, i.e., c.298C > T, IVS3-2A > G, and c.164T > A, among which c.164T > A mutations had not been reported. Patient 6 had c.204C > G mutations in the RAG2 gene. Patient 7 had complex heterozygous mutations of c.913C > T and c.824G > A in the RAG2 gene, which came from his father and mother, respectively. Patients with immunodeficiency disease have abnormal immunological indices, and high-throughput sequencing helps to make a definite diagnosis.