A comprehensive clinical and experimental approach to personalized molecular medicine in patients with defined and undefined autoinflammatory disorders

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Systemic AutoInflammatory Diseases (SAID) are a growing number of monogenic and multifactorial conditions secondary to deregulation of mechanisms controlling innate immune responses and characterized by sterile inflammation. So far, formal diagnostic criteria have been developed only for a few SAID, but their accuracy has not been confirmed in different ages and populations. In spite of our increasing understanding of the molecular mechanisms of SAIDs, there is still a large number of individuals with a clinical diagnosis but without mutations in known disease causing genes. This project includes three essential ingredients: i) well-characterized valuable patient material, ii) a state of the art genomic approach and iii) integration of different functional assays for the identification of novel intracellular pathways possibly involved in the pathogenesis of SAIDs. This is going to make the present project the most promising approach for the identification of causal DNA variants, new genes and biomarkers in genetically orphan SAID patients, and novel possible targets for more effective treatments (personalized medicine).