Whole-exome sequencing applied in the diagnosis of primary immunodeficiency
10.13220/j.cnki.jipr.2017.02.020
- Author:
Xiang CHEN
1
Author Information
1. Department of Neonatology, Children’ s Hospital of Fudan University
- Publication Type:Journal Article
- Keywords:
Gene;
Mutation;
Primary immunodeficiency;
Rare disease;
Whole-exome sequencing
- From:
Journal of International Pharmaceutical Research
2017;44(2):194-203
- CountryChina
- Language:Chinese
-
Abstract:
Whole-exome sequencing(WES)has been widely used in the genetic diagnoses of diseases in clinical practice because of its cost-effectiveness and validity. In this article, we focus on the application of WES in the clinical diagnoses of primary immunodeficiency diseases(PID), summarize pathogenic and novel pathogenic genes of PID detected by WES, and assort these genes in to two groups: transcription factor associated genes and non-transcription factor associated genes, which is expected to contribute to clinical genetic diagnoses.
