和唐主任合作的关于幼年特发性关节炎（JIA）单细胞转录组测序文章在Genes & Diseases上线了。3年前和唐主任一起就课题设计、数据分析开展了多次有益的讨论，唐主任的临床研究生刘云在我们组里和柳青一起开展了数据分析工作。这是我在儿童医院的第一个富有成效的合作结果，虽然投稿过程有点曲折。谢谢唐主任的支持和信任，3年前初到儿院时，遇到很多困难，唐主任借给我招聘技术员的名额，把最好数据给我们分析，支持我们团队。希望更多的成果出来，也希望大家多关注儿科疾病，特别是罕见病。

幼年特发性关节炎（英语：juvenile idiopathic arthritis，JIA）是儿童和青少年中最常见的关节炎类型。病名中的“幼年”是指 16 岁之前发病^[2]，又被译为“儿童”；“特发性”是指没有明确原因的疾病，即病因不明症，也被译为“特异性”；“关节炎”是指关节滑膜的发炎（from Wikipedia）。

这个研究对14名JIA患者和4名健康个体的外周血样本进行了单细胞RNA测序。患者队列中包括各种JIA亚型。进行了功能分析，如伪时间轨迹和细胞通讯研究，以揭示JIA患者的免疫细胞变化。

Single-cell landscape of immunological responses in patients with juvenile idiopathic arthritis

Yun Liu^#, Xiwen Luo^#, Liuqing Yang, Qiang Luo, Xiya Luo, Li Xu, Yating Wang, Yunfei An, Yupeng Cun*, Xuemei Tang*

https://doi.org/10.1016/j.gendis.2025.101577Get rights and content

Abstract

The study aimed to analyze the single-cell transcriptomes of immune cells in juvenile idiopathic arthritis (JIA) patients to understand the cellular heterogeneity within the immune system. Peripheral blood samples from fourteen JIA patients and four healthy individuals were subjected to single-cell RNA sequencing. Various subtypes of JIA were included in the patient cohort. Functional analyses, such as pseudotime trajectories and cell communication studies, were conducted to uncover immune cell changes in JIA patients. Results showed disrupted interferon and acute inflammatory responses in most cell types of JIA patients, with particularly intense responses in systemic JIA (sJIA) patients versus non-sJIA patients. Pseudotime analysis of CD4⁺ T, CD8⁺ T, B, and myeloid cells revealed that the functions of each cytokine production, cytotoxicity, and the processing and presentation of antigens were progressively strengthened, while the regulation of nuclear factor kappa B (NF-κB)-related pathways was weaker in CD4⁺ T and CD8⁺ T cells than in non-JIA. Reclustering analysis of myeloid cells highlighted interferon-related functions predominantly in non-classical monocytes of sJIA patients. Additionally, cell communication analysis identified unique ligand-receptor pairs in sJIA, suggesting potential roles in disease progression. In conclusion, interferon disorders are evident across various immune cell types in JIA patients, with stronger responses observed in sJIA patients. The ligand-receptor pairs involving migration inhibitory factor (MIF) and CXCR7/CD44 may contribute to differing joint symptoms between sJIA and non-sJIA patients. Moreover, non-classical monocytes and the CXCR2 receptor in MIF signaling may play crucial roles in sJIA progression.