The Role of Genomics in Common Variable Immunodeficiency Disorders.

The advent of next generation sequencing (NGS) and ‘omic’ technologies has revolutionised the field of genetics and its implementation in healthcare has the potential to realise precision medicine. Primary immunodeficiencies (PID) are a group of rare diseases which have benefitted from NGS, with a massive increase in causative genes identified in the past few years. Common Variable Immunodeficiency Disorders (CVID) are a heterogeneous form of PID and the most common form of antibody failure in children and adults. While a monogenic cause of disease has been identified in a small subset of CVID patients, a genome wide association study and whole genome sequencing have found a polygenic cause is likely in the majority. Other NGS technologies such as RNA sequencing and epigenetic studies have further contributed to our understanding of the contribution of altered gene expression in CVID pathogenesis. We believe that to further unravel the complexities of CVID, a multi-omic approach, combining DNA sequencing with gene expression, methylation, proteomic and metabolomics data, will be essential to identify novel disease-associated pathways and therapeutic targets. This article is protected by copyright. All rights reserved.

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