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DOI: 10.1017/S1462399403005908; 28 February 2003

Citation details: Melanie Newport (2003) The genetics of nontuberculous mycobacterial infection. Exp. Rev. Mol. Med. Vol. 5, DOI: 10.1017/S1462399403005908

The genetics of nontuberculous mycobacterial infection

Melanie Newport

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The molecular aetiology of familial susceptibility to disseminated mycobacterial disease, usually involving weakly pathogenic strains of mycobacteria, has now been elucidated in more than 30 families. Mutations have been identified in five genes in the interleukin-12-dependent interferon-g pathway, highlighting the importance of this pathway in human mycobacterial immunity. Knowledge derived from the study of these rare patients contributes to our understanding of the immune response to common mycobacterial pathogens such as Mycobacterium tuberculosis and Mycobacterium leprae, which remain major public health problems globally. This knowledge can be applied to the rational development of novel therapies and vaccines for these important mycobacterial diseases.

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Figure 1. Overview of the roles of interleukin 12 (IL-12) and interferon g (IFN-g) in mycobacterial immunity
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Figure 2. A schematic representation of the interferon-g receptor (IFN-gR) and its signalling pathway
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Figure 3. A schematic representation of the interleukin-12 receptor (IL-12R) and its signalling pathway
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Table 1. Genes in which mutations lead to increased susceptibility to nontuberculous mycobacterial infection
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