[Genetic predisposition to infective diseases in humans. Mendelian predisposition to mycobacterial infections].
Selective susceptibility to poorly pathogenic mycobacteria, such as bacille Calmette-Guérin (BCG) vaccine and environmental non-tuberculous mycobacteria (NTM), has long been suspected to be a mendelian disorder but its molecular basis has remained elusive. Recently, recessive mutations in the interferon gamma receptor ligand-binding chain (IFNgR1), interferon gamma receptor signalling chain (IFNgR2), interleukin 12 p40 subunit (IL-12p40), and interleukin 12 receptor beta 1 chain (IL-12Rb1) genes have been identified in a number of patients with disseminated BCG or NTM infection. Although genetically distinct, these conditions are immunologically related and highlight the essential role of interferon gamma-mediated immunity in the control of mycobacteria in man.
Casanova
J L
JL
Laboratoire de Génétique Humaine des Maladies Infectieuses, Faculté de Médecine Necker-Enfants Malades, 156 rue de Vaugirard-75015 Paris.
D020022:Genetic Predisposition to Disease; D006801:Humans; D018664:Interleukin-12 / Q000235:genetics; D009164:Mycobacterium Infections / Q000235:genetics*; D017471:Receptors, Interferon / Q000235:genetics; D018123:Receptors, Interleukin / Q000235:genetics; D000096743:Interferon gamma Receptor
D018664:Interleukin-12; D017471:Receptors, Interferon; D018123:Receptors, Interleukin; D000096743:Interferon gamma Receptor