Genetic susceptibility to mycobacterial disease:: Mendelian disorders of the Interleukin-12-Interferon-γ axis

被引:13
作者
Catherinot, E
Fieschi, C
Feinberg, J
Casanova, JL
Couderc, LJ
机构
[1] Hop Foch, Serv Pneumol, F-92150 Suresnes, France
[2] Univ Paris 05, INSERM, Lab Genet Humaine Maladies Infect, Fac Med Necker,U550, Paris, France
[3] Hop Necker Enfants Malad, Unite Immuno Hematol Pediat, Paris, France
关键词
Mycobacterium; Salmonella; immunodeficiency; Interleukin-12; interferon gamma;
D O I
10.1016/S0761-8425(05)85634-7
中图分类号
R56 [呼吸系及胸部疾病];
学科分类号
摘要
Introduction Environmental non tuberculous mycobacteria and Bacillus Calmette-Guerin vaccines are weakly virulent mycobacteria. Nevertheless they may cause severe diseases in otherwise healthy children with no overt immunodeficiency' Parental consanguinity and familial forms are frequently observed among these patients, therefore this syndrome was named "Mendelian Susceptibility to Mycobacterial Disease". State of the art In the last nine years, fife genes have been found to be mutated in patients with this syndrome: IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1. Allelic heterogeneity accounts for ten distinct genetic disorders. Clinical phenotype differs between patients. The spectrum of disease extends from early-onset overwhelming mycobacterial infection to adult-onset localized disease and tuberculosis. Impaired IFN-gamma-mediated immunity is the common mechanism of the disease, outlining its major role in mycobacterial immunity. Perspectives and conclusions Better understanding of these disorders reveals an expanding clinical phenotype which justifies studying adult patients with pulmonary non tuberculous mycobacterial infection without known risk factors, severe BCGitis and recurrent tuberculosis. Molecular diagnosis makes it possible to introduce a specific regimen based on physiopathology.
引用
收藏
页码:767 / 776
页数:10
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