Recent advances in elucidating the genetics of common variable immunodeficiency

Vaishali Aggarwal; Aaqib Zaffar Banday; Ankur Kumar Jindal; Jhumki Das; Amit Rawat

doi:10.1016/j.gendis.2019.10.002

Recent advances in elucidating the genetics of common variable immunodeficiency

Genes Dis. 2019 Oct 15;7(1):26-37. doi: 10.1016/j.gendis.2019.10.002. eCollection 2020 Mar.

Authors

Vaishali Aggarwal¹, Aaqib Zaffar Banday¹, Ankur Kumar Jindal¹, Jhumki Das¹, Amit Rawat¹

Affiliation

¹ Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Abstract

Common variable immunodeficiency disorders (CVID), a heterogeneous group of inborn errors of immunity, is the most common symptomatic primary immunodeficiency disorder. Patients with CVID have highly variable clinical presentation. With the advent of whole genome sequencing and genome wide association studies (GWAS), there has been a remarkable improvement in understanding the genetics of CVID. This has also helped in understanding the pathogenesis of CVID and has drastically improved the management of these patients. A multi-omics approach integrating the DNA sequencing along with RNA sequencing, proteomics, epigenetic and metabolomics profile is the need of the hour to unravel specific CVID associated disease pathways and novel therapeutic targets. In this review, we elaborate various techniques that have helped in understanding the genetics of CVID.

Keywords: Common variable immunodeficiency (CVID); Epigenome; Genetics; Next generation sequencing (NGS); Transcriptome.

Publication types

Review