Novel compound heterozygous stop ‐gain mutations of LRBA in a Vietnamese patient with Common Variable Immune Deficiency

ConclusionThis 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.

Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Anh N. L. Phan, Thuy T. T. Pham, Nghia Huynh, Tuan M. Nguyen, Cuc T. T. Cao, Duong T. Nguyen, Duc T. Le, Chi ‐Bao Bui Tags: CLINICAL REPORT Source Type: research