Mendelian susceptibility to mycobacterial infection in man.
Selective susceptibility to poorly pathogenic mycobacteria, such as bacille Calmette-Guérin vaccine and environmental non-tuberculous mycobacteria, has long been suspected to be a mendelian disorder but its molecular basis has remained elusive. Recently, recessive mutations in the interferon-gamma-receptor receptor ligand-binding chain, interferon-gamma-receptor signalling chain, IL-12 p40 subunit and IL-12-receptor beta 1 chain genes have been identified in a number of patients with disseminated mycobacterial 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.
Altare
F
F
Institut National de la Santé et de la Recherche Médicale, Unité 429, Hôpital Necker-Enfants Malades, Paris, France.
Jouanguy
E
E
Lamhamedi
S
S
Döffinger
R
R
Fischer
A
A
Casanova
J L
JL
D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007371:Interferon-gamma / Q000172:deficiency; D018664:Interleukin-12 / Q000172:deficiency; D009164:Mycobacterium Infections / Q000235:genetics* / Q000276:immunology; D018123:Receptors, Interleukin / Q000172:deficiency; D053707:Receptors, Interleukin-12
D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12; D018664:Interleukin-12; D007371:Interferon-gamma