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2010-11-01Zeitschriftenartikel DOI: 10.1097/MD.0b013e3181fdd832
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
dc.contributor.authorBeaucoudrey, Ludovic de
dc.contributor.authorSamarina, Arina
dc.contributor.authorBustamante, Jacinta
dc.contributor.authorCobat, Aurélie
dc.contributor.authorBoisson-Dupuis, Stéphanie
dc.contributor.authorFeinberg, Jacqueline
dc.contributor.authorAl-Muhsen, Saleh
dc.contributor.authorJannière, Lucile
dc.contributor.authorRose, Yoann
dc.contributor.authorSuremain, Maylis de
dc.contributor.authorKong, Xiao-Fei
dc.contributor.authorFilipe-Santos, Orchidée
dc.contributor.authorChapgier, Ariane
dc.contributor.authorPicard, Capucine
dc.contributor.authorFischer, Alain
dc.contributor.authorDogu, Figen
dc.contributor.authorIkinciogullari, Aydan
dc.contributor.authorTanir, Gonul
dc.contributor.authorAl-Hajjar, Sami
dc.contributor.authorAl-Jumaah, Suliman
dc.contributor.authorFrayha, Husn H.
dc.contributor.authorAlSum, Zobaida
dc.contributor.authorAl-Ajaji, Sulaiman
dc.contributor.authorAlangari, Abdullah
dc.contributor.authorHaas, Walter
dc.date.accessioned2018-05-07T15:24:50Z
dc.date.available2018-05-07T15:24:50Z
dc.date.created2012-03-08
dc.date.issued2010-11-01none
dc.identifier.otherhttp://edoc.rki.de/oa/articles/reKKq1YcLV06M/PDF/27fdgeCnpxwV.pdf
dc.identifier.urihttp://edoc.rki.de/176904/1139
dc.description.abstractInterleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30 countries. Among 102 probands, the first infection occurred at a mean age of 2.4 years. In 78 patients, this infection was caused by Bacille Calmette-Guérin (BCG; n = 65), environmental mycobacteria (EM; also known as atypical or nontuberculous mycobacteria) (n = 9) or Mycobacterium tuberculosis (n = 4). Twenty-two of the remaining 24 probands initially presented with nontyphoidal, extraintestinal salmonellosis. Twenty of the 29 genetically affected sibs displayed clinical signs (69%); however 8 remained asymptomatic (27%). Nine nongenotyped sibs with symptoms died. Recurrent BCG infection was diagnosed in 15 cases, recurrent EM in 3 cases, recurrent salmonellosis in 22 patients. Ninety of the 132 symptomatic patients had infections with a single microorganism. Multiple infections were diagnosed in 40 cases, with combined mycobacteriosis and salmonellosis in 36 individuals. BCG disease strongly protected against subsequent EM disease (p = 0.00008). Various other infectious diseases occurred, albeit each rarely, yet candidiasis was reported in 33 of the patients (23%). Ninety-nine patients (70%) survived, with a mean age at last follow-up visit of 12.7 years ± 9.8 years (range, 0.5-46.4 yr). IL-12Rβ1 deficiency is characterized by childhood-onset mycobacteriosis and salmonellosis, rare recurrences of mycobacterial disease, and more frequent recurrence of salmonellosis. The condition has higher clinical penetrance, broader susceptibility to infections, and less favorable outcome than previously thought.eng
dc.language.isoeng
dc.publisherRobert Koch-Institut, Infektionsepidemiologie
dc.subjectAdolescenteng
dc.subjectHumanseng
dc.subjectFemaleeng
dc.subjectGenotypeeng
dc.subjectMaleeng
dc.subjectMiddle Agedeng
dc.subjectChildeng
dc.subjectAdulteng
dc.subjectInfanteng
dc.subjectAge Factorseng
dc.subjectSurvival Analysiseng
dc.subjectChild Preschooleng
dc.subjectMycobacterium tuberculosis/isolation & purificationeng
dc.subjectInfant Newborneng
dc.subjectCytokines/bloodeng
dc.subjectInterleukin-12 Receptor beta 1 Subunit/deficiencyeng
dc.subjectInterleukin-12 Receptor beta 1 Subunit/geneticseng
dc.subjectMycobacterium Infections Nontuberculous/epidemiologyeng
dc.subjectMycobacterium Infections Nontuberculous/geneticseng
dc.subjectMycobacterium bovis/isolation & purificationeng
dc.subjectNontuberculous Mycobacteria/isolation & purificationeng
dc.subject.ddc610 Medizin
dc.titleRevisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
dc.typeperiodicalPart
dc.identifier.urnurn:nbn:de:0257-10020718
dc.identifier.doi10.1097/MD.0b013e3181fdd832
dc.identifier.doihttp://dx.doi.org/10.25646/1064
local.edoc.container-titleMedicine
local.edoc.container-textDe Beaucoudrey, L., et al. Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries (2010) Medicine, 89 (6), pp. 381-402.
local.edoc.fp-subtypeArtikel
local.edoc.type-nameZeitschriftenartikel
local.edoc.container-typeperiodical
local.edoc.container-type-nameZeitschrift
local.edoc.container-urlhttp://journals.lww.com/md-journal/pages/articleviewer.aspx?year=2010&issue=11000&article=00002&type=abstract
local.edoc.container-publisher-nameLippincott, Williams & Wilkins
local.edoc.container-volume89
local.edoc.container-issue6
local.edoc.container-year2010

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