International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


PLENARY PRESENTATION

WEDNESDAY 12 NOVEMBER
10:15– 10:45 HRS

GENETIC DISSECTION OF IMMUNITY TO INFECTION: THE HUMAN MODEL

Jean-Laurent Casanova
Laboratory of Human Genetics of Infectious Diseases

Université René Descartes-INSERM U550, Necker Medical School

Co-Authors: Laurent Abel
Institutions: Laboratory of Human Genetics of Infectious Diseases

Université René Descartes-INSERM U550, Necker Medical School

Humans are exposed to a variety of poorly virulent micro-organisms. Only a minority of infected individuals develop clinical disease. The interindividual variability of clinical outcome is thought to result in part from variability in the human genes that control host defense. In this well-defined microbiological and clinical context, the principles of mouse immunology and the methods of human genetics can be combined to facilitate the genetic dissection of immunity to infection in humans. The natural infections are unique to the human model, not being found in any of the animal models of experimental infection. We will review current genetic knowledge concerning the simple and complex inheritance of predisposition to infectious diseases in humans. Rare patients with Mendelian disorders have been found to be vulnerable to environmental microbes. Most cases of presumed Mendelian susceptibility to these remain unexplained. In the general population, common infectious diseases have been shown to be associated with certain human genetic polymorphisms and linked to certain chromosomal regions. However, the causal vulnerability genes themselves have yet to be identified and their pathogenic alleles biologically validated. The studies carried out to date have been fruitful, initiating the genetic dissection of protective immunity against a variety of microbial species in natural conditions of infection. The human model may well become a model of choice for the investigation of immunity to infectious agents.


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