Vogt-Koyanagi-Harada disease (VKH) is a rare autoimmune disease characterized by diffuse and bilateral uveitis, alopecia, tinnitus, hearing loss, vitiligo and headache. The transcriptional expression pattern of peripheral blood mononuclear cells (PBMC) in VKH remains largely unknown. In this study, mRNA sequencing was conducted in PBMC from VKH patients with active uveitis before treatment (n = 7), the same patients after prednisone combined with cyclosporine treatment (n = 7) and healthy control subjects strictly matched with gender and age (n = 7). We found 118 differentially expressed genes (DEGs) between VKH patients and healthy control subjects, and 21 DEGs between VKH patients before and after treatment. TRIB1 was selected as a potential biomarker to monitor the development of VKH according to the mRNA sequencing. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis were performed to predict the possible biological functions and signaling pathways of DEGs. Neutrophil degranulation, peptidase regulator activity, secretory granule membrane, cellular response to peptide, growth factor binding and cell projection membrane were enriched as GO annotations of DEGs. Arachidonic acid metabolism and mitogen-activated protein kinase (MAPK) signaling pathway were potential signaling pathways involved in pathogenesis and drug response of VKH. A protein–protein interaction (PPI) network was constructed by STRING, and colony stimulating factor 1 receptor (CSF1R) was identified as the hubgene of all DEGs by Cytoscape. The cell type presumed to contribute to the aberrant expression of DEGs was analyzed with the use of publicly available single-cell sequencing data of PBMC from a healthy donor and single-cell sequencing dataset of monocytes from VKH patients. Our findings may help to decipher the underlying cellular and molecular pathogenesis of VKH and may lead novel therapeutic applications.

Vogt-Koyanagi-Harada 病 (VKH) 是一种罕见的自身免疫性疾病，其特征是弥漫性和双侧葡萄膜炎、脱发、耳鸣、听力损失、白癜风和头痛。VKH 中外周血单个核细胞 (PBMC) 的转录表达模式仍然很大程度上未知。本研究对治疗前患有活动性葡萄膜炎的VKH患者（n  = 7）、强的松联合环孢素治疗后的相同患者（n  = 7）和严格匹配性别和年龄的健康对照受试者的PBMC进行mRNA测序（n  = 7)。我们在 VKH 患者和健康对照组之间发现了 118 个差异表达基因 (DEG)，在 VKH 患者治疗前后发现了 21 个差异表达基因 (DEG)。TRIB1被选为潜在的生物标志物，根据 mRNA 测序监测 VKH 的发展。进行基因本体论（GO）和京都基因和基因组百科全书（KEGG）分析以预测DEGs可能的生物学功能和信号通路。中性粒细胞脱粒、肽酶调节剂活性、分泌颗粒膜、细胞对肽的反应、生长因子结合和细胞投射膜作为 DEG 的 GO 注释进行了丰富。花生四烯酸代谢和丝裂原活化蛋白激酶（MAPK）信号通路是参与VKH发病机制和药物反应的潜在信号通路。由 STRING 和集落刺激因子 1 受体 ( CSF1R ) 构建蛋白质-蛋白质相互作用 (PPI) 网络) 被 Cytoscape 确定为所有 DEG 的中心基因。使用来自健康供体的公开可用的 PBMC 单细胞测序数据和来自 VKH 患者的单核细胞单细胞测序数据集，分析了推测导致 DEG 异常表达的细胞类型。我们的研究结果可能有助于破译 VKH 的潜在细胞和分子发病机制，并可能引领新的治疗应用。