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Revisiting human IL-12Rbeta1 deficiency: a survey of 141 patients from 30 countries

de Beaucoudrey, Ludovic
Samarina, Arina
Bustamante, Jacinta
Cobat, Aurelie
Boisson-Dupuis, Stephanie
Feinberg, Jacqueline
Abel, L.
Sanal, O.
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CollaborationWith : Siegrist, Claire-Anne
Published in Medicine (Baltimore). 2010, vol. 89, no. 6, p. 381-402
Abstract Interleukin-12 receptor beta1 (IL-12Rbeta1) 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-12Rbeta1 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.
Keywords AdolescentAdultAge FactorsChildChild, PreschoolCytokines/bloodFemaleGenotypeHumansInfantInfant, NewbornInterleukin-12 Receptor beta 1 Subunit/*deficiency/geneticsMaleMiddle AgedMycobacterium Infections, Nontuberculous/epidemiology/geneticsMycobacterium bovis/isolation & purificationMycobacterium tuberculosis/isolation & purificationNontuberculous Mycobacteria/isolation & purificationSurvival Analysis
PMID: 21057261
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Research group Centre de vaccinologie et d'immunologie néonatale (177)
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DE BEAUCOUDREY, Ludovic et al. Revisiting human IL-12Rbeta1 deficiency: a survey of 141 patients from 30 countries. In: Medicine (Baltimore), 2010, vol. 89, n° 6, p. 381-402. doi: 10.1097/MD.0b013e3181fdd832 https://archive-ouverte.unige.ch/unige:20877

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Deposited on : 2012-05-23

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