Molecular diagnosis of severe combined immunodeficiency using whole-exome sequencing
WL Yang, YL Lau, PPW Lee, BHY Chung, J Yang
Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong
1. We studied 50 cases of severe combined immunodeficiency from 33 families using a combination of genetic and genomic approaches.
2. Molecular diagnosis was successfully made in 19 of the 33 families.
3. A novel primary immunodeficiency disease gene—RASGRP1—was identified.
4. In a number of cases, we gained new understanding of genotype-phenotype correlations, such as mutations in TTC7A and in desmoplakin.
5. We gained valuable experience in making a molecular diagnosis of severe combined immunodeficiency; such diagnosis may help determine the causal mutations in this group of patients.