Article
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.
The Journal of experimental medicine - 17 Feb 2003
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
Abstract excerpt
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...
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