Article
[Genetic study of an X-linked agammaglobulinemia pedigree caused by an BTK mutation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2021
Wei Chenxi, Yang Rujing, Yuan Xiaogeng, Yu Shihui, Qin Jianping, Tian Xinxian, Zhang Min
Abstract excerpt
OBJECTIVE: To explore the genetic pathogenesis of X-linked agammaglobulinemia in two patients for clinical diagnosis and family counseling. METHODS: Data was collected from the patients' family including clinical information, blood immunoglobulin level, as well as classification and subgrouping of B lymphocytes. Gene mutations were screened by whole exome sequencing (WES) through next-generation sequencing (NGS),...
Topics
- Agammaglobulinaemia Tyrosine Kinase
- Agammaglobulinemia
- DNA Mutational Analysis
- Genetic Diseases, X-Linked
- Humans
- Mutation
- Pedigree