The genetics of nontuberculous mycobacterial infection.
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.
Cambridge Institute for Medical Research, Addenbrookes Hospital, Hills Road, Cambridge, CB2 2XY, UK. melanie.newport@cimr.cam.ac.uk
Melanie
M
Newport
D020022:Genetic Predisposition to Disease; D006801:Humans; D053762:Interleukin-12 Subunit p40 / Q000235:genetics / Q000378:metabolism; D009165:Mycobacterium Infections, Nontuberculous / Q000235:genetics* / Q000276:immunology* / Q000382:microbiology; D009170:Nontuberculous Mycobacteria / Q000276:immunology* / Q000302:isolation & purification; D017471:Receptors, Interferon / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D053707:Receptors, Interleukin-12 / Q000235:genetics / Q000378:metabolism; D050794:STAT1 Transcription Factor / Q000235:genetics / Q000378:metabolism; D000096743:Interferon gamma Receptor
D053762:Interleukin-12 Subunit p40; D017471:Receptors, Interferon; D053707:Receptors, Interleukin-12; D050794:STAT1 Transcription Factor; D000096743:Interferon gamma Receptor; C500879:IL12B protein, human; C508438:IL12RB1 protein, human; C494079:STAT1 protein, human