Abstract：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.
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