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

Common 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.

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Studies are experimental investigations of a particular phenomenon. e.g. case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients. Click on one of the Study IDs below to find out more.

Study ID Study Title Study Type
EGAS00001000269 Other
ID File Type Size Located in Quality Control
EGAF00000131211 bam 3.5 GB
EGAF00000131212 bam 4.0 GB
EGAF00000131213 bam 4.3 GB
EGAF00000131214 bam 4.4 GB
EGAF00000131215 bam 4.1 GB
EGAF00000131216 bam 4.7 GB
EGAF00000131217 bam 4.4 GB
EGAF00000131218 bam 3.7 GB
EGAF00000131563 bam 3.5 GB
EGAF00000131564 bam 4.1 GB
EGAF00000131565 bam 4.3 GB
EGAF00000131566 bam 4.5 GB
EGAF00000131567 bam 4.1 GB
EGAF00000131568 bam 4.8 GB
EGAF00000131569 bam 4.5 GB
EGAF00000131570 bam 3.7 GB
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