Clinical features and gene mutations of primary immunodeficiency disease: an analysis of 7 cases.
- Author:
Jun-Chao WANG
1
,
2
;
Xiao-Xue LIU
Author Information
1. Department of Pediatrics, Yangluo Branch of the Third People&prime
2. s Hospital of Hubei Province, Wuhan 430415, China. Wangjunchao35@sina.com.
- Publication Type:Journal Article
- MeSH:
Agammaglobulinaemia Tyrosine Kinase;
Agammaglobulinemia;
genetics;
Child, Preschool;
Computational Biology;
DNA-Binding Proteins;
genetics;
Genetic Diseases, X-Linked;
genetics;
High-Throughput Nucleotide Sequencing;
Humans;
Immunologic Deficiency Syndromes;
genetics;
therapy;
Infant;
Interleukin Receptor Common gamma Subunit;
genetics;
Male;
Mutation;
Nuclear Proteins;
genetics;
Protein-Tyrosine Kinases;
genetics
- From:
Chinese Journal of Contemporary Pediatrics
2018;20(4):285-289
- CountryChina
- Language:Chinese
-
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.
