Journal of the neurological sciences · 2025
Characterization of immune cell profiles in the blood of children and adults with tuberous sclerosis complex disease.
СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод в очереди
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Bierhansl Laura, Langenbruch Lisa, Schulte-Mecklenbeck Andreas, Dik Andre, Strzelczyk Adam, Schubert-Bast Susanne, Meyer Sascha, Kellinghaus Christoph, Gross Catharina C, Omran Heymut, Fiedler Barbara, Ebrahimi-Fakhari Daniel, Wiendl Heinz, Kovac Stjepana
Аннотация
BACKGROUND: Tuberous sclerosis (TSC) is characterised by the formation of benign tumours across various organs, particularly in the central nervous system (CNS), where they can lead to epilepsy and neurodevelopmental disorders. TSC results from variants in either TSC1 or TSC2 genes, leading to hyperactivation of the mTORC1 pathway, which plays a pivotal role in regulating cell growth and survival. While the influence of mTOR on immune function has been extensively investigated, our understanding of the composition of immune cells in TSC patients remains limited.
OBJECTIVE: Blood immune cell profiles from healthy controls, epilepsy patients, and TSC patients (with or without mTOR inhibitor therapy) were collected and analyzed via flow cytometry in a multicenter study.
RESULTS: Between 12/2020 and 12/2023, 47 blood samples (mean age: 21 years, range 1-52, 72.3 % female) were analyzed via flow cytometry. Overall, we could not observe a unique immune cell profile between the subgroups as a potential distinguishing feature. However, a few cell populations (T cells, CD8+ T cells) seem to shift in patients with epilepsy (independent of TSC diagnosis) or those receiving mTOR inhibitor therapy (B cells, plasma cells) compared with healthy controls.
CONCLUSION: The overall blood immune cell profile is not changed in patients with epilepsy or TSC. However, analysis of subpopulations (T cells and B cells) has revealed changes in immune cell constitution in patients with epilepsy and those receiving mTOR inhibitor therapy.
OBJECTIVE: Blood immune cell profiles from healthy controls, epilepsy patients, and TSC patients (with or without mTOR inhibitor therapy) were collected and analyzed via flow cytometry in a multicenter study.
RESULTS: Between 12/2020 and 12/2023, 47 blood samples (mean age: 21 years, range 1-52, 72.3 % female) were analyzed via flow cytometry. Overall, we could not observe a unique immune cell profile between the subgroups as a potential distinguishing feature. However, a few cell populations (T cells, CD8+ T cells) seem to shift in patients with epilepsy (independent of TSC diagnosis) or those receiving mTOR inhibitor therapy (B cells, plasma cells) compared with healthy controls.
CONCLUSION: The overall blood immune cell profile is not changed in patients with epilepsy or TSC. However, analysis of subpopulations (T cells and B cells) has revealed changes in immune cell constitution in patients with epilepsy and those receiving mTOR inhibitor therapy.