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Article: Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries

TitleRevisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries
Authors
Issue Date2010
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.md-journal.com
Citation
Medicine, 2010, v. 89 n. 6, p. 381-402 How to Cite?
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. © 2010 Lippincott Williams & Wilkins.
Persistent Identifierhttp://hdl.handle.net/10722/170445
ISSN
2015 Impact Factor: 1.206
2015 SCImago Journal Rankings: 0.877
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorDe Beaucoudrey, Len_US
dc.contributor.authorSamarina, Aen_US
dc.contributor.authorBustamante, Jen_US
dc.contributor.authorCobat, Aen_US
dc.contributor.authorBoissonDupuis, Sen_US
dc.contributor.authorFeinberg, Jen_US
dc.contributor.authorAlMuhsen, Sen_US
dc.contributor.authorJannière, Len_US
dc.contributor.authorRose, Yen_US
dc.contributor.authorDe Suremain, Men_US
dc.contributor.authorKong, XFen_US
dc.contributor.authorFilipeSantos, Oen_US
dc.contributor.authorChapgier, Aen_US
dc.contributor.authorPicard, Cen_US
dc.contributor.authorFischer, Aen_US
dc.contributor.authorDogu, Fen_US
dc.contributor.authorIkinciogullari, Aen_US
dc.contributor.authorTanir, Gen_US
dc.contributor.authorAlHajjar, Sen_US
dc.contributor.authorAlJumaah, Sen_US
dc.contributor.authorFrayha, HHen_US
dc.contributor.authorAlsum, Zen_US
dc.contributor.authorAlAjaji, Sen_US
dc.contributor.authorAlangari, Aen_US
dc.contributor.authorAlGhonaium, Aen_US
dc.contributor.authorAdimi, Pen_US
dc.contributor.authorMansouri, Den_US
dc.contributor.authorBenMustapha, Ien_US
dc.contributor.authorYancoski, Jen_US
dc.contributor.authorGarty, BZen_US
dc.contributor.authorRodriguezGallego, Cen_US
dc.contributor.authorCaragol, Ien_US
dc.contributor.authorKutukculer, Nen_US
dc.contributor.authorKumararatne, DSen_US
dc.contributor.authorPatel, Sen_US
dc.contributor.authorDoffinger, Ren_US
dc.contributor.authorExley, Aen_US
dc.contributor.authorJeppsson, Oen_US
dc.contributor.authorReichenbach, Jen_US
dc.contributor.authorNadal, Den_US
dc.contributor.authorBoyko, Yen_US
dc.contributor.authorPietrucha, Ben_US
dc.contributor.authorAnderson, Sen_US
dc.contributor.authorLevin, Men_US
dc.contributor.authorSchandené, Len_US
dc.contributor.authorSchepers, Ken_US
dc.contributor.authorEfira, Aen_US
dc.contributor.authorMascart, Fen_US
dc.contributor.authorMatsuoka, Men_US
dc.contributor.authorSakai, Ten_US
dc.contributor.authorSiegrist, CAen_US
dc.contributor.authorFrecerova, Ken_US
dc.contributor.authorBlüettersSawatzki, Ren_US
dc.contributor.authorBernhöft, Jen_US
dc.contributor.authorFreihorst, Jen_US
dc.contributor.authorBaumann, Uen_US
dc.contributor.authorRichter, Den_US
dc.contributor.authorHaerynck, Fen_US
dc.contributor.authorDe Baets, Fen_US
dc.contributor.authorNovelli, Ven_US
dc.contributor.authorLammas, Den_US
dc.contributor.authorVermylen, Cen_US
dc.contributor.authorTuerlinckx, Den_US
dc.contributor.authorNieuwhof, Cen_US
dc.contributor.authorPac, Men_US
dc.contributor.authorHaas, WHen_US
dc.contributor.authorMüllerFleckenstein, Ien_US
dc.contributor.authorFleckenstein, Ben_US
dc.contributor.authorLevy, Jen_US
dc.contributor.authorRaj, Ren_US
dc.contributor.authorCohen, ACen_US
dc.contributor.authorLewis, DBen_US
dc.contributor.authorHolland, SMen_US
dc.contributor.authorYang, KDen_US
dc.contributor.authorWang, Xen_US
dc.contributor.authorWang, Xen_US
dc.contributor.authorJiang, Len_US
dc.contributor.authorYang, Xen_US
dc.contributor.authorZhu, Cen_US
dc.contributor.authorXie, Yen_US
dc.contributor.authorLee, PPWen_US
dc.contributor.authorChan, KWen_US
dc.contributor.authorChen, TXen_US
dc.contributor.authorCastro, Gen_US
dc.contributor.authorNatera, Ien_US
dc.contributor.authorCodoceo, Aen_US
dc.contributor.authorKing, Aen_US
dc.contributor.authorBezrodnik, Len_US
dc.contributor.authorDi Giovani, Den_US
dc.contributor.authorGaillard, MIen_US
dc.contributor.authorDe MoraesVasconcelos, Den_US
dc.contributor.authorGrumach, ASen_US
dc.contributor.authorDa Silva Duarte, AJen_US
dc.contributor.authorAldana, Ren_US
dc.contributor.authorEspinosaRosales, FJen_US
dc.contributor.authorBejaoui, Men_US
dc.contributor.authorBousfiha, AAen_US
dc.contributor.authorBaghdadi, JEen_US
dc.contributor.authorÖzbek, Nen_US
dc.contributor.authorAksu, Gen_US
dc.contributor.authorKeser, Men_US
dc.contributor.authorSomer, Aen_US
dc.contributor.authorHatipoglu, Nen_US
dc.contributor.authorAydogmus, Cen_US
dc.contributor.authorAsilsoy, Sen_US
dc.contributor.authorCamcioglu, Yen_US
dc.contributor.authorGülle, Sen_US
dc.contributor.authorOzgur, TTen_US
dc.contributor.authorOzen, Men_US
dc.contributor.authorOleastro, Men_US
dc.contributor.authorBernasconi, Aen_US
dc.contributor.authorMamishi, Sen_US
dc.contributor.authorParvaneh, Nen_US
dc.contributor.authorRosenzweig, Sen_US
dc.contributor.authorBarbouche, Ren_US
dc.contributor.authorPedraza, Sen_US
dc.contributor.authorLau, YLen_US
dc.contributor.authorEhlayel, MSen_US
dc.contributor.authorFieschi, Cen_US
dc.contributor.authorAbel, Len_US
dc.contributor.authorSanal, Oen_US
dc.contributor.authorCasanova, JLen_US
dc.date.accessioned2012-10-30T06:08:58Z-
dc.date.available2012-10-30T06:08:58Z-
dc.date.issued2010en_US
dc.identifier.citationMedicine, 2010, v. 89 n. 6, p. 381-402en_US
dc.identifier.issn0025-7974en_US
dc.identifier.urihttp://hdl.handle.net/10722/170445-
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. © 2010 Lippincott Williams & Wilkins.en_US
dc.languageengen_US
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.md-journal.comen_US
dc.relation.ispartofMedicineen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAge Factorsen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshCytokines - Blooden_US
dc.subject.meshFemaleen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshInterleukin-12 Receptor Beta 1 Subunit - Deficiency - Geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMycobacterium Infections, Nontuberculous - Epidemiology - Geneticsen_US
dc.subject.meshMycobacterium Bovis - Isolation & Purificationen_US
dc.subject.meshMycobacterium Tuberculosis - Isolation & Purificationen_US
dc.subject.meshNontuberculous Mycobacteria - Isolation & Purificationen_US
dc.subject.meshSurvival Analysisen_US
dc.titleRevisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countriesen_US
dc.typeArticleen_US
dc.identifier.emailLee, PPW:ppwlee@hku.hken_US
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_US
dc.identifier.authorityLee, PPW=rp00462en_US
dc.identifier.authorityLau, YL=rp00361en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1097/MD.0b013e3181fdd832en_US
dc.identifier.pmid21057261-
dc.identifier.scopuseid_2-s2.0-78649351360en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-78649351360&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume89en_US
dc.identifier.issue6en_US
dc.identifier.spage381en_US
dc.identifier.epage402en_US
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