X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

@article{FilipeSantos2006XlinkedST,
  title={X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production},
  author={Orchid{\'e}e Filipe-Santos and Jacinta Bustamante and Margje H. Haverkamp and Emilie Vinolo and Cheng-Lung Ku and Anne Puel and David M. Frucht and Karin Christel and Horst von Bernuth and Emmanuelle Jouanguy and Jacqueline Feinberg and Anne H Durandy and Brigitte S{\'e}n{\'e}chal and Ariane L. A. Chapgier and Guillaume Vogt and Ludovic de Beaucoudrey and Claire Fieschi and Capucine Picard and M{\'e}riem Garfa and Abdelattif Achour and Mohamed B{\'e}jaoui and Maria N. Tsolia and Necil Kutukculer and Vassilios Lougaris and Luigi D Notarangelo and Christine Bodemer and Fr{\'e}d{\'e}ric Geissmann and Alain Isra{\"e}l and M. Eug{\`e}ne V{\'e}ron and Maike Katharina Knackstedt and Ridha M Barbouche and Laurent Abel and Klaus Magdorf and Dominique Gendrel and Fabrice Agou and Steven M Holland and J. L. Casanova},
  journal={The Journal of Experimental Medicine},
  year={2006},
  volume={203},
  pages={1745 - 1759}
}
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 mutant proteins were produced in normal amounts in blood and fibroblastic cells… CONTINUE READING

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