Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients

[EN]Understanding how class switch recombination (CSR) is regulated to produce immunoglobulin E (IgE) has become fundamental because of the dramatic increase in the prevalence of IgE-mediated hypersensitivity reactions. CSR requires the induction of the enzyme AICDA in B cells. Mutations in AICDA ha...

Descripción completa

Detalles Bibliográficos
Autores: Roa, Sergio, Isidoro García, María, Dávila González, Ignacio Jesús, Laffond Yges, María Elena, Lorente Toledano, Félix, González Sarmiento, Rogelio
Tipo de recurso: artículo
Fecha de publicación:2008
País:España
Institución:Universidad de Salamanca (USAL)
Repositorio:GREDOS. Repositorio Institucional de la Universidad de Salamanca
OAI Identifier:oai:gredos.usal.es:10366/137014
Acceso en línea:http://hdl.handle.net/10366/137014
Access Level:acceso abierto
Palabra clave:Allergology
Enfermedades inmunológicas
Alergia
Immunologic diseases
Allergy
id ES_1bb0c0dc86681e9b6d4e377d04bf58ab
oai_identifier_str oai:gredos.usal.es:10366/137014
network_acronym_str ES
network_name_str España
repository_id_str
spelling Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient PatientsRoa, SergioIsidoro García, MaríaDávila González, Ignacio JesúsLaffond Yges, María ElenaLorente Toledano, FélixGonzález Sarmiento, RogelioAllergologyEnfermedades inmunológicasAlergiaImmunologic diseasesAllergy[EN]Understanding how class switch recombination (CSR) is regulated to produce immunoglobulin E (IgE) has become fundamental because of the dramatic increase in the prevalence of IgE-mediated hypersensitivity reactions. CSR requires the induction of the enzyme AICDA in B cells. Mutations in AICDA have been linked to Hyper-IgM syndrome (HIGM2), which shows absence of switching to IgE as well as to IgG and IgA. Although isolated IgE deficiency is a rare entity, here we show some individuals with normal serum IgM, IgG, and IgA levels that had undetectable total serum IgE levels. We have analyzed the AICDA gene in these individuals to determine if there are mutations in AICDA that could lead to selective IgE deficiency. Conformational sensitive gel electrophoresis (CSGE) and sequencing analysis of AICDA coding sequences demonstrated sequence heterogeneity due to 5923A/G and 7888C/T polymorphisms, but did not reveal any novel mutation that might explain the selective IgE deficit.Hindawi Publishing Corporation201820182008info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10366/137014reponame:GREDOS. Repositorio Institucional de la Universidad de Salamancainstname:Universidad de Salamanca (USAL)InglésAttribution-NonCommercial-NoDerivs 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:gredos.usal.es:10366/1370142026-06-07T06:28:51Z
dc.title.none.fl_str_mv Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients
title Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients
spellingShingle Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients
Roa, Sergio
Allergology
Enfermedades inmunológicas
Alergia
Immunologic diseases
Allergy
title_short Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients
title_full Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients
title_fullStr Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients
title_full_unstemmed Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients
title_sort Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients
dc.creator.none.fl_str_mv Roa, Sergio
Isidoro García, María
Dávila González, Ignacio Jesús
Laffond Yges, María Elena
Lorente Toledano, Félix
González Sarmiento, Rogelio
author Roa, Sergio
author_facet Roa, Sergio
Isidoro García, María
Dávila González, Ignacio Jesús
Laffond Yges, María Elena
Lorente Toledano, Félix
González Sarmiento, Rogelio
author_role author
author2 Isidoro García, María
Dávila González, Ignacio Jesús
Laffond Yges, María Elena
Lorente Toledano, Félix
González Sarmiento, Rogelio
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv Allergology
Enfermedades inmunológicas
Alergia
Immunologic diseases
Allergy
topic Allergology
Enfermedades inmunológicas
Alergia
Immunologic diseases
Allergy
description [EN]Understanding how class switch recombination (CSR) is regulated to produce immunoglobulin E (IgE) has become fundamental because of the dramatic increase in the prevalence of IgE-mediated hypersensitivity reactions. CSR requires the induction of the enzyme AICDA in B cells. Mutations in AICDA have been linked to Hyper-IgM syndrome (HIGM2), which shows absence of switching to IgE as well as to IgG and IgA. Although isolated IgE deficiency is a rare entity, here we show some individuals with normal serum IgM, IgG, and IgA levels that had undetectable total serum IgE levels. We have analyzed the AICDA gene in these individuals to determine if there are mutations in AICDA that could lead to selective IgE deficiency. Conformational sensitive gel electrophoresis (CSGE) and sequencing analysis of AICDA coding sequences demonstrated sequence heterogeneity due to 5923A/G and 7888C/T polymorphisms, but did not reveal any novel mutation that might explain the selective IgE deficit.
publishDate 2008
dc.date.none.fl_str_mv 2008
2018
2018
dc.type.none.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/10366/137014
url http://hdl.handle.net/10366/137014
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv Attribution-NonCommercial-NoDerivs 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution-NonCommercial-NoDerivs 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Hindawi Publishing Corporation
publisher.none.fl_str_mv Hindawi Publishing Corporation
dc.source.none.fl_str_mv reponame:GREDOS. Repositorio Institucional de la Universidad de Salamanca
instname:Universidad de Salamanca (USAL)
instname_str Universidad de Salamanca (USAL)
reponame_str GREDOS. Repositorio Institucional de la Universidad de Salamanca
collection GREDOS. Repositorio Institucional de la Universidad de Salamanca
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869404180281556992
score 15.300719

Similares en LA Referencia