作者
Vaishali Aggarwal, Aaqib Zaffar Banday, Ankur Kumar Jindal, Jhumki Das, Amit Rawat
发表日期
2020/3/1
来源
Genes & diseases
卷号
7
期号
1
页码范围
26-37
出版商
Elsevier
简介
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.
引用总数
2020202120222023202414141542
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