1. accedaCRIS
  2. Publicaciones
  3. Comentario
Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/48612
DC FieldValueLanguage
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.revisionSíen_US
dc.date.coverdateDiciembre 2016en_US
dc.identifier.ulpgcSíen_US
dc.identifier.ulpgcSíen_US
dc.identifier.ulpgcSíen_US
dc.identifier.ulpgcSíen_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-
Appears in Collections:Comentario
Show simple item record

SCOPUSTM   
Citations

16
checked on Nov 24, 2024

WEB OF SCIENCETM
Citations

14
checked on Nov 24, 2024

Page view(s)

52
checked on Feb 3, 2024

Google ScholarTM

Check

Altmetric


Share


Export metadata


Items in accedaCRIS are protected by copyright, with all rights reserved, unless otherwise indicated.