Identification of the underlying causal variant in a multi-generational family with autosomal dominant common variable immunodeficiency

EGAGenomicsIllumina HiSeq 2000;https://ega-archive.org/datasets/EGAD000010003638EGA dataset EGAD00001000363EGAIdentification of the underlying causal variant in a multi-generational family with autosomal dominant common variable immunodeficiencyfalseEGAS00001000269-sc-20130315 - samplesCommon variable immunodeficiency (CVID) is the most common form of primary immunodeficiency with an estimated incidence of 1:10,000. It has been apparent for many years that CVID has a genetic component, occurs frequently in families and can have both a recessive or dominant mode of inheritance. In recent years, 4 genes underlying CVID have been identified; however, mutations within in them are estimated to account for no more than 10% of all cases of CVID. We have identified a multi-generational family with autosomal dominant CVID. Genome-wide linkage analysis has mapped the locus underlying CVID in this family to an approximately 9.2 Mb interval on chromosome 3q27.3-q29, between the markers D3S3570 and D3S1265. This locus is distinct from any of the previously mapped susceptibility loci suggesting a novel genetic variant is responsible for disease in this family. The aim of this study is to use exome sequencing of affected (n = 4) and unaffected (n = 4) individuals, in tandem with the available genetic mapping data, to identify the causal variant underlying CVID in this family.2021-04-23 20:10:07EGAD000010003639606EGAC00001000205EGAS00001000269