Revisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countries

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dc.contributor.authorde Beaucoudrey, Ludovic
dc.contributor.authorSamarina, Arina
dc.contributor.authorBustamante, Jacinta
dc.contributor.authorCobat, Aurelie
dc.contributor.authorBoisson-Dupuis, Stephanie
dc.contributor.authorFeinberg, Jacqueline
dc.contributor.authorAl-Muhsen, Saleh
dc.contributor.authorJanniere, Lucile
dc.contributor.authorRose, Yoann
dc.contributor.authorde Suremain, Maylis
dc.contributor.authorKong, Xiao-Fei
dc.contributor.authorFilipe-Santos, Orchidee
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.authorAl-Ghonaium, Abdulaziz
dc.contributor.authorAdimi, Parisa
dc.contributor.authorMansouri, Davood
dc.contributor.authorBen-Mustapha, Imen
dc.contributor.authorYancoski, Judith
dc.contributor.authorGarty, Ben-Zion
dc.contributor.authorRodriguez-Gallego, Carlos
dc.contributor.authorCaragol, Isabel
dc.contributor.authorKutukculer, Necil
dc.contributor.authorKumararatne, Dinakantha S.
dc.contributor.authorPatel, Smita
dc.contributor.authorDoffinger, Rainer
dc.contributor.authorExley, Andrew
dc.contributor.authorJeppsson, Olle
dc.contributor.authorReichenbach, Janine
dc.contributor.authorNadal, David
dc.contributor.authorBoyko, Yaryna
dc.contributor.authorPietrucha, Barbara
dc.contributor.authorAnderson, Suzanne
dc.contributor.authorLevin, Michael
dc.contributor.authorSchandene, Liliane
dc.contributor.authorSchepers, Kinda
dc.contributor.authorEfira, Andre
dc.contributor.authorMascart, Francoise
dc.contributor.authorMatsuoka, Masao
dc.contributor.authorSakai, Tatsunori
dc.contributor.authorSiegrist, Claire-Anne
dc.contributor.authorFrecerova, Klara
dc.contributor.authorBlueetters-Sawatzki, Renate
dc.contributor.authorBernhoeft, Jutta
dc.contributor.authorFreihorst, Joachim
dc.contributor.authorBaumann, Ulrich
dc.contributor.authorRichter, Darko
dc.contributor.authorHaerynck, Filomeen
dc.contributor.authorDe Baets, Frans
dc.contributor.authorNovelli, Vas
dc.contributor.authorLammas, David
dc.contributor.authorVermylen, Christiane
dc.contributor.authorTuerlinckx, David
dc.contributor.authorNieuwhof, Chris
dc.contributor.authorPac, Malgorzata
dc.contributor.authorHaas, Walther H.
dc.contributor.authorMueller-Fleckenstein, Ingrid
dc.contributor.authorFleckenstein, Bernhard
dc.contributor.authorLevy, Jacob
dc.contributor.authorRaj, Revathi
dc.contributor.authorCohen, Aileen Cleary
dc.contributor.authorLewis, David B.
dc.contributor.authorHolland, Steven M.
dc.contributor.authorYang, Kuender D.
dc.contributor.authorWang, Xiaochuan
dc.contributor.authorWang, Xiaohong
dc.contributor.authorJiang, Liping
dc.contributor.authorYang, Xiqiang
dc.contributor.authorZhu, Chaomin
dc.contributor.authorXie, Yuanyuan
dc.contributor.authorLee, Pamela Pui Wah
dc.contributor.authorChan, Koon Wing
dc.contributor.authorChen, Tong-Xin
dc.contributor.authorCastro, Gabriela
dc.contributor.authorNatera, Ivelisse
dc.contributor.authorCodoceo, Ana
dc.contributor.authorKing, Alejandra
dc.contributor.authorBezrodnik, Liliana
dc.contributor.authorDi Giovani, Daniela
dc.contributor.authorIsabel Gaillard, Maria
dc.contributor.authorde Moraes-Vasconcelos, Dewton
dc.contributor.authorGrumach, Anete Sevciovic
dc.contributor.authorda Silva Duarte, Alberto Jose
dc.contributor.authorAldana, Ruth
dc.contributor.authorJavier Espinosa-Rosales, Francisco
dc.contributor.authorBejaoui, Mohammed
dc.contributor.authorBousfiha, Ahmed Aziz
dc.contributor.authorEl Baghdadi, Jamila
dc.contributor.authorOzbek, Namik
dc.contributor.authorAksu, Guzide
dc.contributor.authorKeser, Melike
dc.contributor.authorSomer, Ayper
dc.contributor.authorHatipoglu, Nevin
dc.contributor.authorAydogmus, Cigdem
dc.contributor.authorAsilsoy, Suna
dc.contributor.authorCamcioglu, Yildiz
dc.contributor.authorGulle, Saniye
dc.contributor.authorOzgur, Tuba T.
dc.contributor.authorOzen, Meteran
dc.contributor.authorOleastro, Matias
dc.contributor.authorBernasconi, Andrea
dc.contributor.authorMamishi, Setareh
dc.contributor.authorParvaneh, Nima
dc.contributor.authorRosenzweig, Sergio
dc.contributor.authorBarbouche, Ridha
dc.contributor.authorPedraza, Sigifredo
dc.contributor.authorLau, Yu Lung
dc.contributor.authorEhlayel, Mohammad S.
dc.contributor.authorFieschi, Claire
dc.contributor.authorAbel, Laurent
dc.contributor.authorSanal, Ozden
dc.contributor.authorCasanova, Jean-Laurent
dc.date.accessioned2019-10-27T21:14:12Z
dc.date.available2019-10-27T21:14:12Z
dc.date.issued2010
dc.departmentEge Üniversitesien_US
dc.description.abstractInterleukin-12 receptor beta 1 (IL-12R beta 1) 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-Guerin (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-12R beta 1 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.en_US
dc.description.sponsorshipRockefeller University Center for Clinical and Translational Science [5UL1RR024143-03]; Rockefeller University; ANRFrench National Research Agency (ANR); PHRC; EUEuropean Union (EU) [LHSP-CT-2005-018736]; BNP Paribas Foundation; Dana Foundation; March of DimesMarch of Dimes; Fondation pour la Recherche MedicaleFondation pour la Recherche Medicale; Howard Hughes Medical InstituteHoward Hughes Medical Instituteen_US
dc.description.sponsorshipThe St. Giles Laboratory of Human Genetics of Infectious Diseases is supported by grants from The Rockefeller University Center for Clinical and Translational Science grant number 5UL1RR024143-03, and The Rockefeller University, ANR, PHRC, EU (LHSP-CT-2005-018736), BNP Paribas Foundation, the Dana Foundation, and the March of Dimes. LDB is supported by the Fondation pour la Recherche Medicale as part of the PhD program of Pierre et Marie Curie University (Paris, France). JLC was an International Scholar of the Howard Hughes Medical Institute.en_US
dc.identifier.doi10.1097/MD.0b013e3181fdd832en_US
dc.identifier.endpage402en_US
dc.identifier.issn0025-7974
dc.identifier.issn1536-5964
dc.identifier.issue6en_US
dc.identifier.pmid21057261en_US
dc.identifier.startpage381en_US
dc.identifier.urihttps://doi.org/10.1097/MD.0b013e3181fdd832
dc.identifier.urihttps://hdl.handle.net/11454/43345
dc.identifier.volume89en_US
dc.identifier.wosWOS:000283840300002en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherLippincott Williams & Wilkinsen_US
dc.relation.ispartofMedicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleRevisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countriesen_US
dc.typeArticleen_US

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