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http://hdl.handle.net/2445/126092
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DC Field | Value | Language |
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dc.contributor.author | Rodríguez Cortez, Virginia Carolina | - |
dc.contributor.author | Pino Molina, Lucia Del | - |
dc.contributor.author | Rodríguez Ubreva, Javier | - |
dc.contributor.author | Ciudad, Laura | - |
dc.contributor.author | Gómez Cabrero, David | - |
dc.contributor.author | Company, Carlos | - |
dc.contributor.author | Urquiza, José M. | - |
dc.contributor.author | Tegnér, Jesper | - |
dc.contributor.author | Rodríguez-Gallego, Carlos | - |
dc.contributor.author | López Granados, Eduardo | - |
dc.contributor.author | Ballestar Tarín, Esteban | - |
dc.date.accessioned | 2018-11-14T11:40:48Z | - |
dc.date.available | 2018-11-14T11:40:48Z | - |
dc.date.issued | 2015-06-01 | - |
dc.identifier.uri | http://hdl.handle.net/2445/126092 | - |
dc.description.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. | - |
dc.format.extent | 13 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Nature Publishing Group | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1038/ncomms8335 | - |
dc.relation.ispartof | Nature Communications, 2015, vol. 6 | - |
dc.relation.uri | https://doi.org/10.1038/ncomms8335 | - |
dc.rights | cc by (c) Rodríguez-Cortez, Virginia C. et al., 2015 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Immunodeficiència | - |
dc.subject.classification | ADN | - |
dc.subject.classification | Cèl·lules B | - |
dc.subject.other | Immunodeficiency | - |
dc.subject.other | DNA | - |
dc.subject.other | B cells | - |
dc.title | Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naı¨ve-to-memory B-cell transition | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.date.updated | 2018-07-24T12:30:28Z | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/FP7/306000/EU//STATEGRA | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 26081581 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) Publicacions de projectes de recerca finançats per la UE |
Files in This Item:
File | Description | Size | Format | |
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Rodriguez-CortezVC.pdf | 701.69 kB | Adobe PDF | View/Open |
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