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Curr Opin Immunol. 1998 Aug;10(4):413-7.

Mendelian susceptibility to mycobacterial infection in man.

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Institut National de la Santé et de la Recherche Médicale, Unité 429, Hôpital Necker-Enfants Malades, Paris, France.


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.

[Indexed for MEDLINE]

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