Please use this identifier to cite or link to this item:
https://hdl.handle.net/20.500.12530/21537
Title: | Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naïve-to-memory B-cell transition. | |
Authors: | ||
Mesh: | ||
Issue Date: | 17-Jun-2015 | |
Citation: | Nat Commun.2015 Jun;(6):7335 | |
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. | |
PMID: | 26081581 | |
URI: | https://hdl.handle.net/20.500.12530/21537 | |
Rights: | openAccess | |
Appears in Collections: | Fundaciones e Institutos de Investigación > IIS H. U. La Paz > Artículos Hospitales > H. U. La Paz > Artículos | |
Files in This Item:
File | Description | Size | Format | |
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PMC4557293.pdf | 701.69 kB | Adobe PDF | ![]() View/Open |
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