Newport Melanie
Cambridge Institute for Medical Research, Addenbrookes Hospital, Hills Road, Cambridge, CB2 2XY, UK.
Expert Rev Mol Med. 2003 Feb 28;5(6):1-13. doi: 10.1017/S1462399403005908.
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-gamma 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.
家族性播散性分枝杆菌病易感性的分子病因，通常涉及致病性较弱的分枝杆菌菌株，目前已在30多个家族中得到阐明。白细胞介素-12依赖的干扰素-γ途径中的五个基因已被鉴定出突变，突出了该途径在人类抗分枝杆菌免疫中的重要性。对这些罕见患者的研究所得知识有助于我们理解对常见分枝杆菌病原体（如结核分枝杆菌和麻风分枝杆菌）的免疫反应，而这些病原体仍是全球主要的公共卫生问题。这些知识可应用于合理开发针对这些重要分枝杆菌病的新型疗法和疫苗。
