Identificador persistente para citar o vincular este elemento: http://hdl.handle.net/10553/48612
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dc.contributor.authorMartínez De Saavedra Álvarez, María Teresaen_US
dc.contributor.authorGarcía-Gomez, Soniaen_US
dc.contributor.authorDomínguez Acosta, Anaen_US
dc.contributor.authorMendoza Quintana, Juan Jesúsen_US
dc.contributor.authorPáez, Jesús Pochen_US
dc.contributor.authorGarcía-Reino, Eduardo J.en_US
dc.contributor.authorCamps, Graciánen_US
dc.contributor.authorMartinez-Barricarte, Rubénen_US
dc.contributor.authorItan, Yuvalen_US
dc.contributor.authorBoisson, Bertranden_US
dc.contributor.authorSánchez-Ramón, Silviaen_US
dc.contributor.authorRegueiro, José Ramónen_US
dc.contributor.authorCasanova, Jean Laurenten_US
dc.contributor.authorRodríguez-Gallego, Carlosen_US
dc.contributor.authorPérez de Diego, Rebecaen_US
dc.date.accessioned2018-11-23T23:22:53Z-
dc.date.available2018-11-23T23:22:53Z-
dc.date.issued2016en_US
dc.identifier.issn1521-6616en_US
dc.identifier.urihttp://hdl.handle.net/10553/48612-
dc.description.abstractAntibody deficiencies can be caused by a variety of defects that interfere with B-cell development, maturation, and/or function. Using whole-exome sequencing we found a PIK3R1 mutation in a patient with hypogammaglobulinemia and a narrow clinical phenotype of respiratory infections. Early diagnosis is crucial; careful analysis of B and T-cells followed by genetic analyses may help to distinguish activated PI3K-delta syndrome (APDS) from other, less severe, predominantly antibody deficiencies.en_US
dc.languageengen_US
dc.relation.ispartofClinical Immunologyen_US
dc.sourceClinical Immunology[ISSN 1521-6616],v. 173, p. 117-120en_US
dc.subject32 Ciencias médicasen_US
dc.subject3201 Ciencias clínicasen_US
dc.subject.otherAPDSen_US
dc.subject.otherAntibody deficiencyen_US
dc.subject.otherImmunophenotypingen_US
dc.subject.otherPIK3R1en_US
dc.subject.otherWhole-exome sequencingen_US
dc.titleGain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infectionsen_US
dc.typeinfo:eu-repo/semantics/articleen_US
dc.typeArticleen_US
dc.identifier.doi10.1016/j.clim.2016.09.011en_US
dc.identifier.scopus85000443158-
dc.contributor.authorscopusid56231072200-
dc.contributor.authorscopusid56439878400-
dc.contributor.authorscopusid57192194588-
dc.contributor.authorscopusid57192199195-
dc.contributor.authorscopusid57192194696-
dc.contributor.authorscopusid57192189536-
dc.contributor.authorscopusid57192199932-
dc.contributor.authorscopusid16507099700-
dc.contributor.authorscopusid25651630400-
dc.contributor.authorscopusid23484212500-
dc.contributor.authorscopusid6603882745-
dc.contributor.authorscopusid7005510950-
dc.contributor.authorscopusid7201863327-
dc.contributor.authorscopusid6602114379-
dc.contributor.authorscopusid8707726700-
dc.description.lastpage120en_US
dc.description.firstpage117en_US
dc.relation.volume173en_US
dc.investigacionCiencias de la Saluden_US
dc.type2Comentarioen_US
dc.description.numberofpages4en_US
dc.utils.revisionen_US
dc.date.coverdateDiciembre 2016en_US
dc.identifier.ulpgcen_US
dc.identifier.ulpgcen_US
dc.identifier.ulpgcen_US
dc.identifier.ulpgcen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.sjr1,739-
dc.description.jcr3,99-
dc.description.sjrqQ1-
dc.description.jcrqQ2-
dc.description.scieSCIE-
item.grantfulltextnone-
item.fulltextSin texto completo-
crisitem.author.deptGIR IUIBS: Farmacología Molecular y Traslacional-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptDepartamento de Ciencias Médicas y Quirúrgicas-
crisitem.author.orcid0000-0002-4344-8644-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNameMartínez De Saavedra Álvarez, María Teresa-
crisitem.author.fullNameRodríguez Gallego, José Carlos-
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