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.
- Technology: Illumina HiSeq 2000
- 8 samples
- DAC: EGAC00001000205
- Data Use Conditions:
- PS DUO:0000027 (version: 2021-02-23) project specific restriction This data use modifier indicates that use is limited to use within an approved project.
- GRU DUO:0000042 (version: 2021-02-23) general research use This data use permission indicates that use is allowed for general research use for any research purpose.
- US DUO:0000026 (version: 2021-02-23) user specific restriction This data use modifier indicates that use is limited to use by approved users.
- IS DUO:0000028 (version: 2021-02-23) institution specific restriction This data use modifier indicates that use is limited to use within an approved institution.
- PUB DUO:0000019 (version: 2021-02-23) publication required This data use modifier indicates that requestor agrees to make results of studies using the data available to the larger scientific community.
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