Valeria Barili

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3. Results From a cohort of 14 patients affected by neurodevelopmental disorders who underwent to trio WES analysis, five cases received a genetic diagnosis (35.7%), whereas the remaining nine were submitted to the RD-Connect GPAP as part of the Solve-RD project (6 cases) or were internally re-analyzed applying different filters and improved database and reverse-phenotyping data: this process allowed the identification of causative variants in two more cases (14.3%).

Discussion In chronic HBV infection HBV-specific CD8 T cells appear to be functionally heterogeneous.2 12 13 16 29 To elucidate further the phenotypic and functional features of this CD8 T cell heterogeneity and to identify CD8 T cell-based predictors of response to immune reconstitution therapies we first selected a homogeneous chronic active hepatitis patient population with persistent viraemia and liver inflammation, eligible for therapy and expected to harbour terminally exhausted...