Identification, screening and diagnosis of primary immunodeficiency diseases by high throughput sequencing
10.3760/cma.j.issn.2095-428X.2015.09.002
- VernacularTitle:采用高通量测序技术发现、筛查与诊断原发性免疫缺陷病
- Author:
Xiaodong ZHAO
- Publication Type:Journal Article
- Keywords:
Primary immunodeficiency diseases;
Gene mutation;
Genetic diagnosis;
High throughput sequencing
- From:
Chinese Journal of Applied Clinical Pediatrics
2015;30(9):644-647
- CountryChina
- Language:Chinese
-
Abstract:
Primary immunodeficiency diseases (PID) are a group of disorders due to monogenic mutations which result in increased susceptibility to various infections,autoimmunity and malignances.PID is thus considered as an excellent model for human immunology research.In recent years,high throughput sequencing (HTS) gradually comes into clinical uses and represents a revolutionary technique for screening,diagnosis of PID and discovery of new causative genes for emerging PID.Here this article review the international experience of identifying new PID entities by using whole exome sequencing and clinical uses of targeted sequencing to screen and diagnosis PID.
