Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naïve-to-memory B-cell transition

Nat Commun. 2015 Jun 17:6:7335. doi: 10.1038/ncomms8335.

Abstract

Common variable immunodeficiency (CVID), the most frequent primary immunodeficiency characterized by loss of B-cell function, depends partly on genetic defects, and epigenetic changes are thought to contribute to its aetiology. Here we perform a high-throughput DNA methylation analysis of this disorder using a pair of CVID-discordant MZ twins and show predominant gain of DNA methylation in CVID B cells with respect to those from the healthy sibling in critical B lymphocyte genes, such as PIK3CD, BCL2L1, RPS6KB2, TCF3 and KCNN4. Individual analysis confirms hypermethylation of these genes. Analysis in naive, unswitched and switched memory B cells in a CVID patient cohort shows impaired ability to demethylate and upregulate these genes in transitioning from naive to memory cells in CVID. Our results not only indicate a role for epigenetic alterations in CVID but also identify relevant DNA methylation changes in B cells that could explain the clinical manifestations of CVID individuals.

Publication types

  • Research Support, Non-U.S. Gov't
  • Twin Study

MeSH terms

  • B-Lymphocytes / metabolism*
  • Case-Control Studies
  • Common Variable Immunodeficiency / metabolism*
  • DNA Methylation*
  • Gene Expression Regulation
  • Humans
  • Immunologic Memory*
  • Twins, Monozygotic

Associated data

  • GEO/GSE63849