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

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Recent advances in elucidating the genetics of common variable immunodeficiency

Review article | 更新时间：2022-06-24

- Recent advances in elucidating the genetics of common variable immunodeficiency
- Recent advances in elucidating the genetics of common variable immunodeficiency
- Genes & Diseases 2020年7卷第1期
- 作者机构：
  
  Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research,Chandigarh,India
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2019.10.002
  中图分类号：
- 纸质出版日期：2020，
  
  网络出版日期：2020-3-1，
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Vaishali Aggarwal, Aaqib Zaffar Banday, Ankur Kumar Jindal, 等. Recent advances in elucidating the genetics of common variable immunodeficiency[J]. Genes & Diseases, 2020,7(1).

Vaishali Aggarwal, Aaqib Zaffar Banday, Ankur Kumar Jindal, et al. Recent advances in elucidating the genetics of common variable immunodeficiency[J]. Genes & Diseases, 2020,7(1).
Vaishali Aggarwal, Aaqib Zaffar Banday, Ankur Kumar Jindal, 等. Recent advances in elucidating the genetics of common variable immunodeficiency[J]. Genes & Diseases, 2020,7(1). DOI： 10.1016/j.gendis.2019.10.002.

Vaishali Aggarwal, Aaqib Zaffar Banday, Ankur Kumar Jindal, et al. Recent advances in elucidating the genetics of common variable immunodeficiency[J]. Genes & Diseases, 2020,7(1). DOI： 10.1016/j.gendis.2019.10.002.

摘要

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.

关键词

Keywords

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

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