Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches

Jin Li, Zhi Wei, Yun R. Li, S. Melkorka Maggadottir, Xiao Chang, Akshatha Desai, Hakon Hakonarson

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


Background Common variable immunodeficiency disorder (CVID) is the most frequently encountered symptomatic primary immunodeficiency, characterized by highly heterogeneous immunological features and clinical presentations. As better targeted therapies are importantly needed for CVID, improved understanding of the genetic and epigenetic basis for the development of CVID presents the most promising venue for improvement. Scope of review Several genomic and epigenomic studies of CVID have recently been carried out on cohorts of sporadic cases of CVID. Using high-throughput array and sequencing technologies, these studies identified several loci associated with the disease. Here, we review the omics approaches used in these studies and resulting discoveries. We also discuss how these findings lead to improved understanding of the molecular basis of CVID and possible future directions to pursue. Major conclusions High-throughput omics approaches have been productive in genetic and epigenetic studies of CVID, leading to the identifications of several significantly associated loci of different variant types, as well as genes and pathways elucidating the shared genetic basis of CVID and autoimmunity. Complex polygenic model of inheritance together with interplay between genetic components and environmental factors may account for the etiology of CVID and various associated comorbidities. General significance The genetic and epigenetic basis of CVID when further translated through functional studies will allow for improved understanding of the CVID etiology and will provide new insights into the development of potential new therapeutic approaches for this devastating condition. This article is part of a Special Issue entitled “System Genetics” Guest Editor: Dr. Yudong Cai and Dr. Tao Huang.

Original languageEnglish (US)
Pages (from-to)2656-2663
Number of pages8
JournalBiochimica et Biophysica Acta - General Subjects
Issue number11
StatePublished - Nov 1 2016
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Biochemistry
  • Molecular Biology


  • Common variable immunodeficiency disorder
  • Copy number variation
  • Epigenetic
  • Genome-wide association study
  • Meta-analysis


Dive into the research topics of 'Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches'. Together they form a unique fingerprint.

Cite this