Background

West Syndrome (WS) is an epileptic encephalopathy that typically occurs in infants and is characterized by hypsarrhythmia, infantile spasms, and neurodevelopmental impairment. Demonstration of autoantibodies and cytokines in some WS patients and favorable response to immunotherapy have implicated inflammation as a putative trigger of epileptiform activity in WS. Our aim was to provide additional support for altered inflammatory responses in WS through peripheral blood immunophenotype analysis.

Methods

Eight WS cases treated with synacthen and 11 age- and sex-matched healthy volunteers were included. Peripheral blood mononuclear cells (PBMC) were isolated and immunophenotyping was performed in pre-treatment baseline (8 patients) and 3 months post-treatment (6 patients) samples. The analysis included PBMC expressing NFκB transcription and NLRP3 inflammasome factors.

Results

In pre-treatment baseline samples, switched memory B cells (CD19⁺IgD⁻CD27⁺) were significantly reduced, whereas plasma cells (CD19⁺CD38⁺CD138⁺) and cytotoxic T cells (CD3⁺CD8⁺) were significantly increased. Regulatory T and B cell ratios were not significantly altered. Synacthen treatment only marginally reduced helper T cell ratios and did not significantly change other T, B, NK and NKT cell and monocyte ratios.

Conclusions

Our findings lend further support for the involvement of inflammation-related mechanisms in WS. New-onset WS patients are inclined to display increased plasma cells in the peripheral blood. Synacthen treatment does not show a beneficial effect on most effector acquired and innate immunity subsets.

中文翻译：

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West 综合征患者外周血单核细胞亚型的分布：synacthen 治疗的影响

背景

韦斯特综合征 (WS) 是一种癫痫性脑病，通常发生于婴儿，其特征是心律失常、婴儿痉挛和神经发育障碍。在一些 WS 患者中显示出自身抗体和细胞因子，以及对免疫治疗的良好反应，表明炎症是 WS 癫痫样活动的推定触发因素。我们的目的是通过外周血免疫表型分析为 WS 炎症反应的改变提供额外支持。

方法

纳入了 8 名接受 synacthen 治疗的 WS 病例和 11 名年龄和性别匹配的健康志愿者。分离外周血单核细胞 (PBMC)，并对治疗前基线（8 名患者）和治疗后 3 个月（6 名患者）样本进行免疫表型分析。分析包括表达 NFκB 转录和 NLRP3 炎性体因子的 PBMC。

结果

在治疗前基线样本中，转换记忆 B 细胞 (CD19 ⁺ IgD ^– CD27 ⁺ ) 显着减少，而浆细胞 (CD19 ⁺ CD38 ⁺ CD138 ⁺ ) 和细胞毒性 T 细胞 (CD3 ⁺ CD8 ⁺ ) 显着增加。调节性 T 细胞和 B 细胞比例没有显着改变。Synacthen 治疗仅略微降低辅助 T 细胞比例，并没有显着改变其他 T、B、NK 和 NKT 细胞与单核细胞的比例。

结论

我们的研究结果进一步支持了 WS 中炎症相关机制的参与。新发的 WS 患者外周血中浆细胞倾向于增加。Synacthen 治疗对大多数效应器获得性免疫和先天免疫亚群没有显示出有益作用。