Identificador persistente para citar o vincular este elemento: http://hdl.handle.net/10553/48644
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dc.contributor.authorFieschi, Claireen_US
dc.contributor.authorDupuis, Stéphanieen_US
dc.contributor.authorCatherinot, Emilieen_US
dc.contributor.authorFeinberg, Jacquelineen_US
dc.contributor.authorBustamante, Jacintaen_US
dc.contributor.authorBreiman, Adrienen_US
dc.contributor.authorAltare, Frédéricen_US
dc.contributor.authorBaretto, Richarden_US
dc.contributor.authorLe Deist, Françoiseen_US
dc.contributor.authorKayal, Sameren_US
dc.contributor.authorKoch, Hartmuten_US
dc.contributor.authorRichter, Darkoen_US
dc.contributor.authorBrezina, Martinen_US
dc.contributor.authorAksu, Guzideen_US
dc.contributor.authorWood, Philen_US
dc.contributor.authorAl-Jumaah, Sulimanen_US
dc.contributor.authorRaspall, Miquelen_US
dc.contributor.authorDa Silva Duarte, Alberto Joséen_US
dc.contributor.authorTuerlinckx, Daviden_US
dc.contributor.authorVirelizier, Jean Louisen_US
dc.contributor.authorFischer, Alainen_US
dc.contributor.authorEnright, Andreaen_US
dc.contributor.authorBernhöft, Juttaen_US
dc.contributor.authorCleary, Aileen M.en_US
dc.contributor.authorVermylen, Christianeen_US
dc.contributor.authorRodriguez-Gallego, Carlosen_US
dc.contributor.authorDavies, Grahamen_US
dc.contributor.authorBlütters-Sawatzki, Renateen_US
dc.contributor.authorSiegrist, Claire Anneen_US
dc.contributor.authorEhlayel, Mohammad S.en_US
dc.contributor.authorNovelli, Vasen_US
dc.contributor.authorHaas, Walther H.en_US
dc.contributor.authorLevy, Jacoben_US
dc.contributor.authorFreihorst, Joachimen_US
dc.contributor.authorAl-Hajjar, Samien_US
dc.contributor.authorNadal, Daviden_US
dc.contributor.authorDe Moraes Vasconcelos, Dewtonen_US
dc.contributor.authorJeppsson, Olleen_US
dc.contributor.authorKutukculer, Necilen_US
dc.contributor.authorFrecerova, Klaraen_US
dc.contributor.authorCaragol, Isabelen_US
dc.contributor.authorLammas, Daviden_US
dc.contributor.authorKumararatne, Dinakantha S.en_US
dc.contributor.authorAbel, Laurenten_US
dc.contributor.authorCasanova, Jean Laurenten_US
dc.date.accessioned2018-11-23T23:41:20Z-
dc.date.available2018-11-23T23:41:20Z-
dc.date.issued2003en_US
dc.identifier.issn0022-1007en_US
dc.identifier.urihttp://hdl.handle.net/10553/48644-
dc.description.abstractThe clinical phenotype of interleukin 12 receptor beta1 chain (IL-12Rbeta1) deficiency and the function of human IL-12 in host defense remain largely unknown, due to the small number of patients reported. We now report 41 patients with complete IL-12Rbeta1 deficiency from 17 countries. The only opportunistic infections observed, in 34 patients, were of childhood onset and caused by weakly virulent Salmonella or Mycobacteria (Bacille Calmette-Guérin -BCG- and environmental Mycobacteria). Three patients had clinical tuberculosis, one of whom also had salmonellosis. Unlike salmonellosis, mycobacterial infections did not recur. BCG inoculation and BCG disease were both effective against subsequent environmental mycobacteriosis, but not against salmonellosis. Excluding the probands, seven of the 12 affected siblings have remained free of case-definition opportunistic infection. Finally, only five deaths occurred in childhood, and the remaining 36 patients are alive and well. Thus, a diagnosis of IL-12Rbeta1 deficiency should be considered in children with opportunistic mycobacteriosis or salmonellosis; healthy siblings of probands and selected cases of tuberculosis should also be investigated. The overall prognosis is good due to broad resistance to infection and the low penetrance and favorable outcome of infections. Unexpectedly, human IL-12 is redundant in protective immunity against most microorganisms other than Mycobacteria and Salmonella. Moreover, IL-12 is redundant for primary immunity to Mycobacteria and Salmonella in many individuals and for secondary immunity to Mycobacteria but not to Salmonella in most.en_US
dc.languageengen_US
dc.relation.ispartofJournal of Experimental Medicineen_US
dc.sourceJournal of Experimental Medicine[ISSN 0022-1007],v. 197, p. 527-535 (Febrero 2003)en_US
dc.subject32 Ciencias médicasen_US
dc.subject3205 Medicina internaen_US
dc.subject.otherInterleukin 12en_US
dc.subject.otherBacille Calmette-Guérinen_US
dc.subject.otherMycobacteriaen_US
dc.titleLow penetrance, broad resistance, and favorable outcome of interleukin 12 receptor β1 deficiency: Medical and immunological implicationsen_US
dc.typeinfo:eu-repo/semantics/articleen_US
dc.typeArticleen_US
dc.identifier.doi10.1084/jem.20021769en_US
dc.identifier.scopus0037450808-
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dc.description.lastpage535en_US
dc.description.firstpage527en_US
dc.relation.volume197en_US
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
dc.description.numberofpages9en_US
dc.utils.revisionen_US
dc.date.coverdateFebrero 2003en_US
dc.identifier.ulpgcen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.scieSCIE-
item.fulltextSin texto completo-
item.grantfulltextnone-
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-
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