Mendelian susceptibility to mycobacterial infection in man

✍ Scribed by Frédéric Altare; Emmanuelle Jouanguy; Salma Lamhamedi; Rainer Döffinger; Alain Fischer; Jean-Laurent Casanova

• Publisher: Elsevier Science
• Year: 1998
• Tongue: English
• Weight: 613 KB
• Volume: 10
• Category: Article
• ISSN: 0952-7915
• DOI: 10.1016/s0952-7915(98)80114-3

✦ Synopsis

Selective susceptibility to poorly pathogenic mycobacteria, such as bacille Calmette-GuBrin 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-yreceptor ligand-binding chain, interferon-y-receptor signalling chain, IL-1 2 p40 subunit and IL-l P-receptor pl 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-y-mediated immunity in the control of mycobacteria in man.