Sydenham舞蹈病的单细胞RNA序列显示B细胞HLA-DR/DQ上调和浆细胞蛋白酶体激活。

IF 3.9 2区医学 Q1 CLINICAL NEUROLOGY

Annals of Clinical and Translational Neurology Pub Date : 2025-08-26 DOI:10.1002/acn3.70179

Velda X Han, Brooke A Keating, Brian S Gloss, Xianzhong Lau, Ruwani Dissanayake, Hiroya Nishida, Jessica Hayes, Shrujna Patel, Shekeeb S Mohammad, Russell C Dale

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引用次数: 0

摘要

西德纳姆舞蹈病的发病机制尚不清楚。我们报告一个10岁的女孩，在链球菌性喉部感染后出现亚急性舞蹈病和轻度心炎。对来自患者和两个性别匹配对照的30,794个外周免疫细胞进行单细胞RNA测序，发现了9个免疫细胞簇。我们在B细胞、单核细胞和嗜酸性粒细胞中发现了抗原加工途径的上调，这些抗原加工途径被HLA基因（特别是HLA- drb5和HLA- dqb1）和B细胞中的免疫球蛋白（IGH）基因富集。PSM基因富集了浆细胞中上调的蛋白酶体通路。这些见解支持B细胞介导的自身抗体假说在西德纳姆舞蹈病。我们强调scRNA-seq在罕见疾病中的潜力，为靶向治疗提供信息。

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Single-Cell RNA Seq in Sydenham Chorea Shows B Cell HLA-DR/DQ Upregulation and Plasma Cell Proteasomal Activation.

The pathogenesis of Sydenham chorea remains unclear. We report a 10-year-old girl presenting with subacute chorea and mild carditis following Streptococcal throat infection. Single-cell RNA sequencing on 30,794 peripheral immune cells from the patient and two sex-matched controls revealed nine immune cell clusters. We found up-regulated antigen processing pathways in B cells, monocytes, and eosinophils, enriched by HLA genes, particularly HLA-DRB5 and HLA-DQB1, and immunoglobulin (IGH) genes in B cells. Up-regulated proteasomal pathways in plasma cells were enriched by PSM genes. These insights support the B cell-mediated autoantibody hypothesis in Sydenham chorea. We highlight the potential of scRNA-seq in rare diseases to inform targeted therapies.

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来源期刊

Annals of Clinical and Translational Neurology Medicine-Neurology (clinical)

CiteScore

9.10

自引率

1.90%

发文量

218

审稿时长

8 weeks

期刊介绍： Annals of Clinical and Translational Neurology is a peer-reviewed journal for rapid dissemination of high-quality research related to all areas of neurology. The journal publishes original research and scholarly reviews focused on the mechanisms and treatments of diseases of the nervous system; high-impact topics in neurologic education; and other topics of interest to the clinical neuroscience community.