1. accedaCRIS
  2. Publicaciones
  3. Artículos
Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/48639
DC FieldValueLanguage
dc.contributor.authorCardenes, Maríaen_US
dc.contributor.authorvon Bernuth, Horsten_US
dc.contributor.authorGarcía-Saavedra, Ayozeen_US
dc.contributor.authorSantiago Garcia, Dunia Estheren_US
dc.contributor.authorPuel, Anneen_US
dc.contributor.authorKu, Cheng Lungen_US
dc.contributor.authorEmile, Jean Françoisen_US
dc.contributor.authorPicard, Capucineen_US
dc.contributor.authorCasanova, Jean Laurenten_US
dc.contributor.authorColino, Elenaen_US
dc.contributor.authorBordes, Anaen_US
dc.contributor.authorGarfia, Antonioen_US
dc.contributor.authorRodríguez-Gallego, Carlosen_US
dc.date.accessioned2018-11-23T23:38:30Z-
dc.date.available2018-11-23T23:38:30Z-
dc.date.issued2006en_US
dc.identifier.issn0022-3476en_US
dc.identifier.urihttp://hdl.handle.net/10553/48639-
dc.description.abstractWe report a kindred with autosomal recessive interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency in 3 fourth-degree relatives. A diagnosis of IRAK-4 deficiency should be considered in families with invasive bacterial disease, even if the individuals affected are only distantly related, which falsely suggests multigenic or dominant inheritance with low penetrance.en_US
dc.languageengen_US
dc.relation.ispartofJournal of Pediatricsen_US
dc.sourceJournal of Pediatrics[ISSN 0022-3476],v. 148, p. 549-551 (Abril 2006)en_US
dc.subject32 Ciencias médicasen_US
dc.subject320102 Genética clínicaen_US
dc.subject320110 Pediatríaen_US
dc.subject.otherImmunologic Deficiency Syndromesen_US
dc.subject.otherInterleukin-1en_US
dc.subject.otherIntracellular Signaling Peptides and Proteinsen_US
dc.titleAutosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relativesen_US
dc.typeinfo:eu-repo/semantics/articleen_US
dc.typeArticleen_US
dc.identifier.doi10.1016/j.jpeds.2005.12.012en_US
dc.identifier.scopus33646505294-
dc.contributor.authorscopusid13408367600-
dc.contributor.authorscopusid55983430500-
dc.contributor.authorscopusid13408676500-
dc.contributor.authorscopusid20335859300-
dc.contributor.authorscopusid6602102891-
dc.contributor.authorscopusid7101950604-
dc.contributor.authorscopusid7103118811-
dc.contributor.authorscopusid7101616884-
dc.contributor.authorscopusid7201863327-
dc.contributor.authorscopusid13408217400-
dc.contributor.authorscopusid57055491900-
dc.contributor.authorscopusid6602485013-
dc.contributor.authorscopusid6602114379-
dc.description.lastpage551en_US
dc.description.firstpage549en_US
dc.relation.volume148en_US
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
dc.description.numberofpages3en_US
dc.utils.revisionSíen_US
dc.date.coverdateAbril 2006en_US
dc.identifier.ulpgcSíen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.jcr3,991-
dc.description.jcrqQ1-
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.fullNameRodríguez Gallego, José Carlos-
Appears in Collections:Artículos
Show simple item record

Google ScholarTM

Check

Altmetric


Share


Export metadata


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