Recent advances in elucidating the genetics of common variable immunodeficiency

被引：38

作者：

Aggarwal, Vaishali ^{[1
]}

Banday, Aaqib Zaffar ^{[1
]}

Jindal, Ankur Kumar ^{[1
]}

Das, Jhumki ^{[1
]}

Rawat, Amit ^{[1
]}

机构：

[1] Postgrad Inst Med Educ & Res, Dept Pediat, Allergy & Immunol Unit, Adv Pediat Ctr, Chandigarh, India

来源：

GENES & DISEASES | 2020年 / 7卷 / 01期

关键词：

Common variable immunodeficiency (CVID); Epigenome; Genetics; Next generation sequencing (NGS); Transcriptome; ANTIBODY-DEFICIENCY SYNDROME; EXPRESSION ANALYSIS; DNA METHYLATION; RAG1; MUTATION; B-CELLS; REVEALS; GENOME; ADULT; HAPLOINSUFFICIENCY; CLASSIFICATION;

D O I：

10.1016/j.gendis.2019.10.002

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

070307 [化学生物学]; 071010 [生物化学与分子生物学];

摘要：

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 multiomics 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. Copyright (C) 2019, Chongqing Medical University. Production and hosting by Elsevier B.V.

引用

页码：26 / 37

页数：12

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