A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.

@article{Bustamante2006ANX,
  title={A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.},
  author={Jacinta Bustamante and Capucine Picard and Claire Fieschi and Orchid{\'e}e Filipe-Santos and Jacqueline E. Feinberg and Christian Perronne and Ariane L. A. Chapgier and Ludovic de Beaucoudrey and Guillaume Vogt and D. Sanlaville and Arnaud Lemainque and Jean-François Emile and Laurent Abel and J. Hugo P{\'e}rez Casanova},
  journal={Journal of medical genetics},
  year={2006},
  volume={44 2},
  pages={
          e65
        }
}
BACKGROUND Mendelian susceptibility to mycobacterial disease (MSMD) is associated with infection caused by weakly virulent mycobacteria in otherwise healthy people. Causal germline mutations in five autosomal genes (IFNGR1, IFNGR2, STAT1, IL12RB1, IL12B) and one X-linked (NEMO) gene have been described. The gene products are physiologically related, as they are involved in interleukin 12/23-dependent, interferon gamma-mediated immunity. However, no genetic aetiology has yet been identified for… CONTINUE READING
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