Article
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.
The Journal of experimental medicine - 10 Jul 2006
Filipe-Santos Orchidée, Bustamante Jacinta, Haverkamp Margje H, Vinolo Emilie, Ku Cheng-Lung, Puel Anne, Frucht David M, Christel Karin, von Bernuth Horst, Jouanguy Emmanuelle, Feinberg Jacqueline, Durandy Anne, Senechal Brigitte, Chapgier Ariane, Vogt Guillaume, de Beaucoudrey Ludovic, Fieschi Claire, Picard Capucine, Garfa Meriem, Chemli Jalel, Bejaoui Mohamed, Tsolia Maria N, Kutukculer Necil, Plebani Alessandro, Notarangelo Luigi, Bodemer Christine, Geissmann Frédéric, Israël Alain, Véron Michel, Knackstedt Maike, Barbouche Ridha, Abel Laurent, Magdorf Klaus, Gendrel Dominique, Agou Fabrice, Holland Steven M, Casanova Jean-Laurent
Abstract excerpt
Germline mutations in five autosomal genes involved in interleukin (IL)-12-dependent, interferon (IFN)-gamma-mediated immunity cause Mendelian susceptibility to mycobacterial diseases (MSMD). The molecular basis of X-linked recessive (XR)-MSMD remains unknown. We report here mutations in the leucine zipper (LZ) domain of the NF-kappaB essential modulator (NEMO) gene in three unrelated kindreds with XR-MSMD. The...
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