Immunophenotyping of peripheral blood mononuclear cells in tuberous sclerosis complex

Abstract Tuberous sclerosis complex (TSC) is a multisystem disorder caused by loss-of-function mutations in TSC1/2 proteins. This results constitutive mTOR activation and predisposes to the development of benign tumours, with renal angiomyolipomas (AMLs) tuber-related drug-resistant epilepsy (DRE) being major causes morbidity mortality adults. Despite central role leukocyte biology beneficial impact inhibitors TSC, immune system inflammation tumours DRE people TSC remains unknown. Using peripheral blood mononuclear cells (PBMCs) serum from healthy controls (HC) non-TSC DRE, we employed flow cytometry multiplex assays interrogate profile associated chronic loss inhibition. We found that higher levels astroglial marker GFAP are elevated show high intergenotype variability. also observed differences circulating cell populations, cytokines, chemokines growth factors related TSC. proportion B parallel increased total IgG but reduction IL-2 IL-7 lower frequency T cells. vs without AML showed CD4:CD8 ratio, monocytes dendritic frequencies. Finally, affected polarization, leading an c17CD8 +T cells, especially subjects DRE. Overall, our findings indicate biomarkers for inflammation, glial activation, distribution PBMCs compared controls.