Please use this identifier to cite or link to this item:
https://accedacris.ulpgc.es/handle/10553/48639
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Cardenes, María | en_US |
dc.contributor.author | von Bernuth, Horst | en_US |
dc.contributor.author | García-Saavedra, Ayoze | en_US |
dc.contributor.author | Santiago Garcia, Dunia Esther | en_US |
dc.contributor.author | Puel, Anne | en_US |
dc.contributor.author | Ku, Cheng Lung | en_US |
dc.contributor.author | Emile, Jean François | en_US |
dc.contributor.author | Picard, Capucine | en_US |
dc.contributor.author | Casanova, Jean Laurent | en_US |
dc.contributor.author | Colino, Elena | en_US |
dc.contributor.author | Bordes, Ana | en_US |
dc.contributor.author | Garfia, Antonio | en_US |
dc.contributor.author | Rodríguez-Gallego, Carlos | en_US |
dc.date.accessioned | 2018-11-23T23:38:30Z | - |
dc.date.available | 2018-11-23T23:38:30Z | - |
dc.date.issued | 2006 | en_US |
dc.identifier.issn | 0022-3476 | en_US |
dc.identifier.uri | https://accedacris.ulpgc.es/handle/10553/48639 | - |
dc.description.abstract | We 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.language | eng | en_US |
dc.relation.ispartof | Journal of Pediatrics | en_US |
dc.source | Journal of Pediatrics[ISSN 0022-3476],v. 148, p. 549-551 (Abril 2006) | en_US |
dc.subject | 32 Ciencias médicas | en_US |
dc.subject | 320102 Genética clínica | en_US |
dc.subject | 320110 Pediatría | en_US |
dc.subject.other | Immunologic Deficiency Syndromes | en_US |
dc.subject.other | Interleukin-1 | en_US |
dc.subject.other | Intracellular Signaling Peptides and Proteins | en_US |
dc.title | Autosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives | en_US |
dc.type | info:eu-repo/semantics/article | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.1016/j.jpeds.2005.12.012 | en_US |
dc.identifier.scopus | 33646505294 | - |
dc.contributor.authorscopusid | 13408367600 | - |
dc.contributor.authorscopusid | 55983430500 | - |
dc.contributor.authorscopusid | 13408676500 | - |
dc.contributor.authorscopusid | 20335859300 | - |
dc.contributor.authorscopusid | 6602102891 | - |
dc.contributor.authorscopusid | 7101950604 | - |
dc.contributor.authorscopusid | 7103118811 | - |
dc.contributor.authorscopusid | 7101616884 | - |
dc.contributor.authorscopusid | 7201863327 | - |
dc.contributor.authorscopusid | 13408217400 | - |
dc.contributor.authorscopusid | 57055491900 | - |
dc.contributor.authorscopusid | 6602485013 | - |
dc.contributor.authorscopusid | 6602114379 | - |
dc.description.lastpage | 551 | en_US |
dc.description.firstpage | 549 | en_US |
dc.relation.volume | 148 | en_US |
dc.investigacion | Ciencias de la Salud | en_US |
dc.type2 | Artículo | en_US |
dc.description.numberofpages | 3 | en_US |
dc.utils.revision | Sí | en_US |
dc.date.coverdate | Abril 2006 | en_US |
dc.identifier.ulpgc | Sí | en_US |
dc.contributor.buulpgc | BU-MED | en_US |
dc.description.jcr | 3,991 | - |
dc.description.jcrq | Q1 | - |
dc.description.scie | SCIE | - |
item.grantfulltext | none | - |
item.fulltext | Sin texto completo | - |
crisitem.author.dept | GIR IUIBS: Farmacología Molecular y Traslacional | - |
crisitem.author.dept | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.dept | Departamento de Ciencias Médicas y Quirúrgicas | - |
crisitem.author.orcid | 0000-0002-4344-8644 | - |
crisitem.author.parentorg | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.fullName | Rodríguez Gallego, José Carlos | - |
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