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- W4366753622 abstract "Les interféronopathies de type I sont des maladies génétiques auto-inflammatoires rares engendrées par une activation constitutive de la voie des interférons de type I. Ce concept, individualisé il y a un peu plus d’une décennie, regroupe désormais plus de 30 génotypes, incriminant dans la majorité des cas une perturbation du métabolisme des acides nucléiques. Les signes cardinaux évocateurs sont les suivants : neurologiques (syndrome pyramidal, calcifications des noyaux gris centraux) et dermatologiques (engelures). Les découvertes médicales et scientifiques récentes ont permis de compléter ce phénotype initial. Un argument supplémentaire, en faveur de recherches génétiques d’interféronopathies de type I, est la positivité du taux d’interféron de type I ou l’élévation de l’expression des gènes stimulés par l’interféron (signature interféron) chez les patients suspects. Ces recherches génétiques permettent l’amélioration des connaissances de ces voies physiopathologiques et d’envisager des traitements prometteurs ciblant les voies impliquées. Type I interferonopathies are rare genetic autoinflammatory diseases caused by a constitutive activation of the type I interferon pathway. Characterized a little over a decade ago, this concept now includes more than 30 genotypes, involving in most cases a disturbance of nucleic acid metabolism. Suggestive cardinal signs are the following: neurological (spasticity, intracranial calcifications) and dermatological (chilblains) signs. Recent medical and scientific discoveries have expanded this initial phenotype. Elevation of the level of type I interferon or the expression of interferon-stimulated genes (ISGs, interferon signature) in suspected cases is an additional argument in favor of genetic investigations. Genetic research makes it possible to improve our knowledge of the pathophysiological pathways relevant to these disorders and to consider promising targeted treatments." @default.
- W4366753622 created "2023-04-24" @default.
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- W4366753622 date "2023-06-01" @default.
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- W4366753622 title "Interféronopathies de type I : d’un nouveau concept aux thérapeutiques ciblées" @default.
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- W4366753622 doi "https://doi.org/10.1016/j.perped.2023.04.003" @default.
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