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Management of Autoimmune Encephalitis in a 7-Year-Old Child With CTLA-4 Haploinsufficiency and AMPA Receptor Antibodies: A Case Report.

作者信息

Quaak Marjolijn S W, Buijze Michiel S J, Verhoeven Virginie J M, Vermont Clementien, Buddingh Emilie P, Heredia Maud, Samsom Janneke N, Titulaer Maarten J, van Rossum Annemarie M C, Kamphuis Sylvia, Neuteboom Rinze Frederik

出版信息

Neurol Neuroimmunol Neuroinflamm. 2025 Mar;12(2):e200381. doi: 10.1212/NXI.0000000000200381. Epub 2025 Feb 12.

DOI:10.1212/NXI.0000000000200381
PMID:39938014
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11825085/
Abstract
摘要

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1
Management of Autoimmune Encephalitis in a 7-Year-Old Child With CTLA-4 Haploinsufficiency and AMPA Receptor Antibodies: A Case Report.一名患有CTLA-4单倍体不足和AMPA受体抗体的7岁儿童自身免疫性脑炎的管理:病例报告
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Management of Autoimmune Encephalitis in a 7-Year-Old Child With CTLA-4 Haploinsufficiency and AMPA Receptor Antibodies: A Case Report.CTLA-4 部分功能缺失突变伴 AMPA 受体抗体阳性的 7 岁儿童自身免疫性脑炎的诊治:病例报告
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Glutamate receptor antibodies in neurological diseases: anti-AMPA-GluR3 antibodies, anti-NMDA-NR1 antibodies, anti-NMDA-NR2A/B antibodies, anti-mGluR1 antibodies or anti-mGluR5 antibodies are present in subpopulations of patients with either: epilepsy, encephalitis, cerebellar ataxia, systemic lupus erythematosus (SLE) and neuropsychiatric SLE, Sjogren's syndrome, schizophrenia, mania or stroke. These autoimmune anti-glutamate receptor antibodies can bind neurons in few brain regions, activate glutamate receptors, decrease glutamate receptor's expression, impair glutamate-induced signaling and function, activate blood brain barrier endothelial cells, kill neurons, damage the brain, induce behavioral/psychiatric/cognitive abnormalities and ataxia in animal models, and can be removed or silenced in some patients by immunotherapy.神经疾病中的谷氨酸受体抗体:抗AMPA - GluR3抗体、抗NMDA - NR1抗体、抗NMDA - NR2A/B抗体、抗mGluR1抗体或抗mGluR5抗体存在于以下疾病患者的亚组中:癫痫、脑炎、小脑共济失调、系统性红斑狼疮(SLE)和神经精神性SLE、干燥综合征、精神分裂症、躁狂症或中风。这些自身免疫性抗谷氨酸受体抗体可在少数脑区与神经元结合,激活谷氨酸受体,降低谷氨酸受体的表达,损害谷氨酸诱导的信号传导和功能,激活血脑屏障内皮细胞,杀死神经元,损伤大脑,在动物模型中诱发行为/精神/认知异常和共济失调,并且在一些患者中可通过免疫疗法去除或使其失活。
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本文引用的文献

1
Management of Autoimmune Encephalitis in a 7-Year-Old Child With CTLA-4 Haploinsufficiency and AMPA Receptor Antibodies: A Case Report.CTLA-4 部分功能缺失突变伴 AMPA 受体抗体阳性的 7 岁儿童自身免疫性脑炎的诊治:病例报告
Neurol Neuroimmunol Neuroinflamm. 2024 Jul;11(4):e200254. doi: 10.1212/NXI.0000000000200254. Epub 2024 May 10.