Novel compound heterozygous stop-gain mutations of LRBA in a Vietnamese patient with Common Variable Immune Deficiency.
Anh N L PhanThuy Thi Thanh PhamNghia HuynhTuan M NguyenCuc T T CaoDuong T NguyenDuc T LeChi-Bao BuiPublished in: Molecular genetics & genomic medicine (2020)
This first report of LRBA deficiency in Vietnam expands our knowledge of the diverse phenotypes and genotypes driving CVID. Finally, the utilization of WES shows great promise as an effective diagnostic for CVID in our setting.