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Inherited disorders of IL-12- and IFNγ-mediated immunity: a molecular genetics update

Authors :
Rainer Doffinger
J. Feinberg
S Dupuis
Gabriela Barcenas-Morales
Claire Fieschi
Capucine Picard
Jean-Laurent Casanova
Source :
Molecular Immunology. 38:903-909
Publication Year :
2002
Publisher :
Elsevier BV, 2002.

Abstract

In the last 6 years, considerable advances have been made in the molecular analysis of a rare clinical syndrome: Mendelian susceptibility to mycobacterial disease (MSMD). Infection with poorly virulent environmental non-tuberculous mycobacteria (NTM) or vaccination with bacillus Calmette-Guerin (BCG) may cause disseminating and even fatal disease in individuals suffering from this syndrome. Mutations in five genes (IFNGR1, IFNGR2, STAT1, IL12B and IL12RB1) have been shown to be responsible for MSMD and further allelic heterogeneity accounts for the existence of nine distinct inherited disorders. All of these disorders are caused by impaired IFNgamma-mediated immunity. These results have important medical and biological implications. In this report, we update the disease-causing mutations reported in the literature.

Details

ISSN :
01615890
Volume :
38
Database :
OpenAIRE
Journal :
Molecular Immunology
Accession number :
edsair.doi.dedup.....773b34d22e611f1d34b522c08064a3a9
Full Text :
https://doi.org/10.1016/s0161-5890(02)00017-2