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Recent advances in elucidating the genetics of common variable immunodeficiency

Recent advances in elucidating the genetics of common variable immunodeficiency

Vaishali Aggarwal
Aaqib Zaffar Banday
Ankur Kumar Jindal
Jhumki Das
Amit Rawat
Genes & Diseases第7卷, 第1期pp.26-37纸质出版 2020-03-01在线发表 2019-10-15
192700

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. Amultiomics 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.

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Common variable immunodeficiency (CVID)EpigenomeGeneticsNext generation sequencing (NGS)Transcriptome