Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders


Common Variable Immunodeficiency Disorders (CVIDs) are the most prevalent cause of primary antibody failure. CVIDs are highly variable and a genetic causes have been identified in <5% of patients. Here, we performed whole genome sequencing (WGS) of 34 CVID patients (94% sporadic) and combined them with transcriptomic profiling (RNA-sequencing of B cells… (More)
DOI: 10.1016/j.clim.2015.05.020


6 Figures and Tables