[HTML][HTML] Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naive-to-memory B-cell transition

VC Rodríguez-Cortez, L del Pino-Molina… - Nature …, 2015 - nature.com
VC Rodríguez-Cortez, L del Pino-Molina, J Rodríguez-Ubreva, L Ciudad, D Gómez-Cabrero
Nature communications, 2015nature.com
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 …
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.
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