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Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/48629
DC FieldValueLanguage
dc.contributor.authorCárdenes, Maríaen_US
dc.contributor.authorAngel-Moreno, Alfonsoen_US
dc.contributor.authorFieschi, Claireen_US
dc.contributor.authorSologuren, Ithaisaen_US
dc.contributor.authorColino, Elenaen_US
dc.contributor.authorMolinés, Antonioen_US
dc.contributor.authorGarcía-Laorden, M. Isabelen_US
dc.contributor.authorCampos-Herrero, M. Isolinaen_US
dc.contributor.authorAndujar Sanchez, Miguelen_US
dc.contributor.authorCasanova, Jean Laurenten_US
dc.contributor.authorRodríguez-Gallego, Carlosen_US
dc.date.accessioned2018-11-23T23:32:46Z-
dc.date.available2018-11-23T23:32:46Z-
dc.date.issued2010en_US
dc.identifier.issn0022-2593en_US
dc.identifier.urihttp://hdl.handle.net/10553/48629-
dc.description.abstractGenetic defects in the IL-12-IL-23/IFN-γ circuit confer Mendelian susceptibility to mycobacteria and salmonella. The IL-12/IFN-γ axis is essential for anti-tumoral immunity in mice. Cancer susceptibility has not been recognised in these patients so far. We report three relatives with IL-12Rβ1 deficiency. At the age of 25 years old, one patient presented with oesophageal squamous cell carcinoma (OSCC). The patient had no previous risk factors for OSCC. He died at the age of 29 years. OSCC is exceedingly rare in individuals under 30 years and frequently relates to alcohol intake and smoking. Disorders of the IL-12-IL-23/IFN-γ axis may predispose to cancer.en_US
dc.languageengen_US
dc.relation.ispartofJournal of Medical Geneticsen_US
dc.sourceJournal of Medical Genetics[ISSN 0022-2593],v. 47(9), p. 635-637 (Junio 2010)en_US
dc.subject32 Ciencias médicasen_US
dc.subject320102 Genética clínicaen_US
dc.subject320101 Oncologíaen_US
dc.subject.otherOesophageal squamous cellen_US
dc.subject.otherCarcinomaen_US
dc.subject.otherIL-12Rβ1 deficiencyen_US
dc.titleOesophageal squamous cell carcinoma in a young adult with IL-12Rβ1 deficiencyen_US
dc.typeinfo:eu-repo/semantics/articleen_US
dc.typeArticleen_US
dc.identifier.doi10.1136/jmg.2009.071910en_US
dc.identifier.scopus77956130043-
dc.contributor.authorscopusid13408367600-
dc.contributor.authorscopusid6602260581-
dc.contributor.authorscopusid7102011904-
dc.contributor.authorscopusid36451076500-
dc.contributor.authorscopusid13408217400-
dc.contributor.authorscopusid23497698300-
dc.contributor.authorscopusid6506073949-
dc.contributor.authorscopusid6603084722-
dc.contributor.authorscopusid57151048700-
dc.contributor.authorscopusid7201863327-
dc.contributor.authorscopusid6602114379-
dc.description.lastpage637en_US
dc.description.firstpage635en_US
dc.relation.volume47en_US
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
dc.description.numberofpages3en_US
dc.utils.revisionSíen_US
dc.date.coverdateJunio 2010en_US
dc.identifier.ulpgcSíen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.jcr7,037-
dc.description.jcrqQ1-
dc.description.scieSCIE-
item.grantfulltextnone-
item.fulltextSin texto completo-
crisitem.author.deptGIR IUIBS: Patología médica-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptGIR IUIBS: Diabetes y endocrinología aplicada-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
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.orcid0000-0002-1310-3354-
crisitem.author.orcid0000-0002-4858-6915-
crisitem.author.orcid0000-0002-4344-8644-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNameCampos Herrero Navas,María Isolina-
crisitem.author.fullNameAndujar Sanchez,Miguel-
crisitem.author.fullNameRodríguez Gallego, José Carlos-
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