[HTML][HTML] Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders
PA van Schouwenburg, EE Davenport, AK Kienzler… - Clinical …, 2015 - Elsevier
Abstract 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) from three patients and three healthy controls. We identified variants
in CVID disease genes TNFRSF13B, TNFRSF13C, LRBA and NLRP12 and enrichment of …
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) from three patients and three healthy controls. We identified variants
in CVID disease genes TNFRSF13B, TNFRSF13C, LRBA and NLRP12 and enrichment of …
