Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor ß1 deficiency: Medical and immunological implications

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dc.contributor.authorFieschi C.
dc.contributor.authorDupuis S.
dc.contributor.authorCatherinot E.
dc.contributor.authorFeinberg J.
dc.contributor.authorBustamante J.
dc.contributor.authorBreiman A.
dc.contributor.authorAltare F.
dc.contributor.authorBaretto R.
dc.contributor.authorLe Deist F.
dc.contributor.authorKayal S.
dc.contributor.authorKoch H.
dc.contributor.authorRichter D.
dc.contributor.authorBrezina M.
dc.contributor.authorAksu G.
dc.contributor.authorWood P.
dc.contributor.authorAl-Jumaah S.
dc.contributor.authorRaspall M.
dc.contributor.authorDa Silva Duarte A.J.
dc.contributor.authorTuerlinckx D.
dc.contributor.authorVirelizier J.-L.
dc.contributor.authorFischer A.
dc.contributor.authorEnright A.
dc.contributor.authorBernhöft J.
dc.contributor.authorCleary A.M.
dc.contributor.authorVermylen C.
dc.contributor.authorRodriguez-Gallego C.
dc.contributor.authorDavies G.
dc.contributor.authorBlütters-Sawatzki R.
dc.contributor.authorSiegrist C.-A.
dc.contributor.authorEhlayel M.S.
dc.contributor.authorNovelli V.
dc.contributor.authorHaas W.H.
dc.contributor.authorLevy J.
dc.contributor.authorFreihorst J.
dc.contributor.authorAl-Hajjar S.
dc.contributor.authorNadal D.
dc.contributor.authorDe Moraes Vasconcelos D.
dc.contributor.authorJeppsson O.
dc.contributor.authorKutukculer N.
dc.contributor.authorFrecerova K.
dc.contributor.authorCaragol I.
dc.contributor.authorLammas D.
dc.contributor.authorKumararatne D.S.
dc.contributor.authorAbel L.
dc.contributor.authorCasanova J.-L.
dc.date.accessioned2019-10-27T08:59:45Z
dc.date.available2019-10-27T08:59:45Z
dc.date.issued2003
dc.departmentEge Üniversitesien_US
dc.description.abstractThe clinical phenotype of interleukin 12 receptor ß1 chain (IL-12Rß1) 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-12Rß1 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-12Rß1 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.identifier.doi10.1084/jem.20021769en_US
dc.identifier.endpage535en_US
dc.identifier.issn0022-1007
dc.identifier.issue4en_US
dc.identifier.pmid12591909en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage527en_US
dc.identifier.urihttps://doi.org/10.1084/jem.20021769
dc.identifier.urihttps://hdl.handle.net/11454/27896
dc.identifier.volume197en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofJournal of Experimental Medicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectImmunodeficiencyen_US
dc.subjectInterferon ?en_US
dc.subjectInterleukin 12 receptoren_US
dc.subjectMycobacteriaSalmonellaen_US
dc.titleLow penetrance, broad resistance, and favorable outcome of interleukin 12 receptor ß1 deficiency: Medical and immunological implicationsen_US
dc.typeArticleen_US

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