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
Department of Neurology with Institute of Translational Neurology, University Hospital Münster, 48149 Münster, Germany.
Department of Neurology, Klinikum Osnabrück, 49076 Osnabrück, Germany.
J Neurol Sci. 2025 May 15;472:123465. doi: 10.1016/j.jns.2025.123465. Epub 2025 Mar 13.
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.
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.
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.
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.
结节性硬化症（TSC）的特征是在各个器官中形成良性肿瘤，尤其是在中枢神经系统（CNS），这些肿瘤可导致癫痫和神经发育障碍。TSC由TSC1或TSC2基因的变异引起，导致mTORC1通路过度激活，该通路在调节细胞生长和存活中起关键作用。虽然mTOR对免疫功能的影响已得到广泛研究，但我们对TSC患者免疫细胞组成的了解仍然有限。
在一项多中心研究中，通过流式细胞术收集并分析了健康对照、癫痫患者以及TSC患者（接受或未接受mTOR抑制剂治疗）的血液免疫细胞谱。
在2020年12月至2023年12月期间，通过流式细胞术分析了47份血液样本（平均年龄：21岁，范围1 - 52岁，72.3%为女性）。总体而言，我们未观察到各亚组之间存在独特的免疫细胞谱作为潜在的区分特征。然而，与健康对照相比，癫痫患者（与TSC诊断无关）或接受mTOR抑制剂治疗的患者（B细胞、浆细胞）中，一些细胞群体（T细胞、CD8 + T细胞）似乎发生了变化。
癫痫患者或TSC患者的总体血液免疫细胞谱没有改变。然而，对亚群（T细胞和B细胞）的分析揭示了癫痫患者和接受mTOR抑制剂治疗的患者免疫细胞组成的变化。
