Résumé
Les maladies infectieuses représentent la première cause de mortalité dans le monde. Malgré les importants progrès réalisés dans la prise en charge des infections les plus graves, comme le sepsis sévère et le choc septique, le pronostic reste sombre, avec une mortalité avoisinant 40–50 % chez les patients hospitalisés en réanimation pour état de choc septique. Cette constatation a permis de penser qu’outre les facteurs d’immunosuppression acquis (déficit immunitaire postinfectieux, infection par le virus de l’immunodéficience humaine, splénectomie, aplasie), des facteurs génétiques existent et peuvent prédisposer l’individu à certaines pathologies infectieuses ou é des présentations inhabituellement graves d’infections « banales ». De plus, l’existence de récurrences familiales a été un argument supplémentaire pour suspecter la présence de variants génétiques pouvant expliquer les différences phénotypiques cliniques et biologiques observées quotidiennement. La suspicion d’un « facteur génétique » pouvant influencer le risque de développer une maladie infectieuse n’est pas un sujet « moderne ». En effet, dès 1933, Webster rapportait dans le Journal of Experimental Medicine la sélection de lignées de souris susceptibles ou résistantes à l’infection par Bacillus enteritidis, soulignant le rôle du fond génétique murin dans la réponse à l’agression microbienne [1, 2]. Il a cependant fallu attendre plusieurs dizaines d’années avant de pouvoir identifier des variants génétiques responsables de ces phénotypes infectieux « extrêmes » chez l’Homme.
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Références
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Geri, G., Bouglé, A., Rousseau, C., Mira, JP. (2013). Prédisposition génétique et sepsis. In: Infectiologie en réanimation. Références en réanimation. Collection de la SRLF. Springer, Paris. https://doi.org/10.1007/978-2-8178-0389-0_2
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