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Title: Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor β1 deficiency: Medical and immunological implications
Authors: Fieschi, Claire
Dupuis, Stéphanie
Catherinot, Emilie
Feinberg, Jacqueline
Bustamante, Jacinta
Breiman, Adrien
Altare, Frédéric
Baretto, Richard
Le Deist, Françoise
Kayal, Samer
Koch, Hartmut
Richter, Darko
Brezina, Martin
Aksu, Guzide
Wood, Phil
Al-Jumaah, Suliman
Raspall, Miquel
Da Silva Duarte, Alberto José
Tuerlinckx, David
Virelizier, Jean Louis
Fischer, Alain
Enright, Andrea
Bernhöft, Jutta
Cleary, Aileen M.
Vermylen, Christiane
Rodriguez-Gallego, Carlos 
Davies, Graham
Blütters-Sawatzki, Renate
Siegrist, Claire Anne
Ehlayel, Mohammad S.
Novelli, Vas
Haas, Walther H.
Levy, Jacob
Freihorst, Joachim
Al-Hajjar, Sami
Nadal, David
De Moraes Vasconcelos, Dewton
Jeppsson, Olle
Kutukculer, Necil
Frecerova, Klara
Caragol, Isabel
Lammas, David
Kumararatne, Dinakantha S.
Abel, Laurent
Casanova, Jean Laurent
UNESCO Clasification: 32 Ciencias médicas
3205 Medicina interna
Keywords: Interleukin 12
Bacille Calmette-Guérin
Issue Date: 2003
Journal: Journal of Experimental Medicine 
Abstract: The clinical phenotype of interleukin 12 receptor beta1 chain (IL-12Rbeta1) 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-12Rbeta1 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-12Rbeta1 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.
ISSN: 0022-1007
DOI: 10.1084/jem.20021769
Source: Journal of Experimental Medicine[ISSN 0022-1007],v. 197, p. 527-535 (Febrero 2003)
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