Epigenetic Mechanisms in two primary immunodeficiencies: Hyper-IgM Syndrome and Common Variable Immunodeficiency

Tesi realitzada a l'Institut d'Investigació Biomèdica de Bellvitge (IDIBELL)

Bibliographic Details
Author: Rodríguez Cortez, Virginia Carolina
Format: doctoral thesis
Status:Published version
Publication Date:2015
Country:España
Institution:CBUC, CESCA
Repository:TDR. Tesis Doctorales en Red
OAI Identifier:oai:www.tdx.cat:10803/311631
Online Access:http://hdl.handle.net/10803/311631
Access Level:Open access
Keyword:Immunodeficiència
Immunodeficiencia
Immunodeficiency
Epigenètica
Epigenética
Epigenetics
Ciències de la Salut
575
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spelling Epigenetic Mechanisms in two primary immunodeficiencies: Hyper-IgM Syndrome and Common Variable ImmunodeficiencyRodríguez Cortez, Virginia CarolinaImmunodeficiènciaImmunodeficienciaImmunodeficiencyEpigenèticaEpigenéticaEpigeneticsCiències de la Salut575Tesi realitzada a l'Institut d'Investigació Biomèdica de Bellvitge (IDIBELL)The proper function of the immune system requires complex regulatory mechanisms and a highly strict balance in the amount and function of immune and non-immune elements. Part of the primary immunodeficiencies result from mutations in specific genes and their clinical manifestations can be recapitulated through the generation of knockout mice models that support the role of these genes. However, an important number of these disorders cannot be explained by genetic alterations and, to date, there is not an alternative explanation to understand it. This makes difficult the diagnosis process, the establishment of prognosis markers and complicates the finding of specific treatments or the improvement of the existing ones. Epigenetic mechanisms, mainly DNA methylation and histone modifications, are elements of gene control and have emerged to provide explanation to a wide variety of diseases including those related to the immune system. For that reason, this doctoral thesis was focused on investigating the influence of the epigenetic mechanisms in two primary immunodeficiencies: Hyper-IgM Syndrome and Common Variable Immunodeficiency. This was achieved by the establishment of the following specific objectives: 1. To investigate the influence of activation-induced cytidine deaminase (AID), commonly mutated in Hyper-IgM Syndrome, in the setting of epigenetic modifications in an inducible B cell model. 2. To analyze the effects of AID mutations in the acquisition of epigenetic alterations. 3. To determine the participation of epigenetic alterations in CVID by focusing on the DNA methylation profiling of B cells isolated from monozygotic twins discordant for CVID. 4. To expand the results obtained with monozygotic twins discordant for CVID in three different B cell subsets from a cohort of healthy donors and CVID patients.Universitat de BarcelonaBallestar Tarín, EstebanBallestar Tarín, EstebanUniversitat de Barcelona. Facultat de Medicina201520162015info:eu-repo/semantics/doctoralThesisinfo:eu-repo/semantics/publishedVersion178 p.application/pdfapplication/pdfhttp://hdl.handle.net/10803/311631TDX (Tesis Doctorals en Xarxa)reponame:TDR. Tesis Doctorales en Redinstname:CBUC, CESCAInglésADVERTIMENT. L'accés als continguts d'aquesta tesi doctoral i la seva utilització ha de respectar els drets de la persona autora. Pot ser utilitzada per a consulta o estudi personal, així com en activitats o materials d'investigació i docència en els termes establerts a l'art. 32 del Text Refós de la Llei de Propietat Intel·lectual (RDL 1/1996). Per altres utilitzacions es requereix l'autorització prèvia i expressa de la persona autora. En qualsevol cas, en la utilització dels seus continguts caldrà indicar de forma clara el nom i cognoms de la persona autora i el títol de la tesi doctoral. No s'autoritza la seva reproducció o altres formes d'explotació efectuades amb finalitats de lucre ni la seva comunicació pública des d'un lloc aliè al servei TDX. Tampoc s'autoritza la presentació del seu contingut en una finestra o marc aliè a TDX (framing). Aquesta reserva de drets afecta tant als continguts de la tesi com als seus resums i índexs.info:eu-repo/semantics/openAccessoai:www.tdx.cat:10803/3116312026-06-14T12:46:07Z
dc.title.none.fl_str_mv Epigenetic Mechanisms in two primary immunodeficiencies: Hyper-IgM Syndrome and Common Variable Immunodeficiency
title Epigenetic Mechanisms in two primary immunodeficiencies: Hyper-IgM Syndrome and Common Variable Immunodeficiency
spellingShingle Epigenetic Mechanisms in two primary immunodeficiencies: Hyper-IgM Syndrome and Common Variable Immunodeficiency
Rodríguez Cortez, Virginia Carolina
Immunodeficiència
Immunodeficiencia
Immunodeficiency
Epigenètica
Epigenética
Epigenetics
Ciències de la Salut
575
title_short Epigenetic Mechanisms in two primary immunodeficiencies: Hyper-IgM Syndrome and Common Variable Immunodeficiency
title_full Epigenetic Mechanisms in two primary immunodeficiencies: Hyper-IgM Syndrome and Common Variable Immunodeficiency
title_fullStr Epigenetic Mechanisms in two primary immunodeficiencies: Hyper-IgM Syndrome and Common Variable Immunodeficiency
title_full_unstemmed Epigenetic Mechanisms in two primary immunodeficiencies: Hyper-IgM Syndrome and Common Variable Immunodeficiency
title_sort Epigenetic Mechanisms in two primary immunodeficiencies: Hyper-IgM Syndrome and Common Variable Immunodeficiency
dc.creator.none.fl_str_mv Rodríguez Cortez, Virginia Carolina
author Rodríguez Cortez, Virginia Carolina
author_facet Rodríguez Cortez, Virginia Carolina
author_role author
dc.contributor.none.fl_str_mv Ballestar Tarín, Esteban
Ballestar Tarín, Esteban
Universitat de Barcelona. Facultat de Medicina
dc.subject.none.fl_str_mv Immunodeficiència
Immunodeficiencia
Immunodeficiency
Epigenètica
Epigenética
Epigenetics
Ciències de la Salut
575
topic Immunodeficiència
Immunodeficiencia
Immunodeficiency
Epigenètica
Epigenética
Epigenetics
Ciències de la Salut
575
description Tesi realitzada a l'Institut d'Investigació Biomèdica de Bellvitge (IDIBELL)
publishDate 2015
dc.date.none.fl_str_mv 2015
2015
2016
dc.type.none.fl_str_mv info:eu-repo/semantics/doctoralThesis
info:eu-repo/semantics/publishedVersion
format doctoralThesis
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10803/311631
url http://hdl.handle.net/10803/311631
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 178 p.
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Universitat de Barcelona
publisher.none.fl_str_mv Universitat de Barcelona
dc.source.none.fl_str_mv TDX (Tesis Doctorals en Xarxa)
reponame:TDR. Tesis Doctorales en Red
instname:CBUC, CESCA
instname_str CBUC, CESCA
reponame_str TDR. Tesis Doctorales en Red
collection TDR. Tesis Doctorales en Red
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869408475151335424
score 15,301603

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