Since the advent of single-cell RNA sequencing (scRNA-seq) methodology, single-cell analysis has become a powerful tool for exploration of cellular networks and dysregulated immune responses in disease pathogenesis. Advanced bioinformatics tools have enabled the combined analysis of scRNA-seq data and information on various cell properties, such as cell surface molecular profiles, chromatin accessibility and spatial information, leading to a deeper understanding of pathology. This Review provides an overview of the achievements in single-cell analysis applied to clinical samples of rheumatic and allergic diseases, including rheumatoid arthritis, systemic lupus erythematosus, systemic sclerosis, allergic airway diseases and atopic dermatitis, with an expanded scope beyond peripheral blood cells to include local diseased tissues. Despite the valuable insights that single-cell analysis has provided into disease pathogenesis, challenges remain in translating single-cell findings into clinical practice and developing personalized treatment strategies. Beyond understanding the atlas of cellular diversity, we discuss the application of data obtained in each study to clinical practice, with a focus on identifying biomarkers and therapeutic targets.

自从单细胞 RNA 测序 (scRNA-seq) 方法出现以来，单细胞分析已成为探索疾病发病机制中细胞网络和失调免疫反应的强大工具。先进的生物信息学工具可以对 scRNA-seq 数据和各种细胞特性的信息进行组合分析，例如细胞表面分子谱、染色质可及性和空间信息，从而更深入地了解病理学。本综述概述了单细胞分析应用于风湿和过敏性疾病临床样本的成就，包括类风湿性关节炎、系统性红斑狼疮、系统性硬化症、过敏性气道疾病和特应性皮炎，其范围超出了外周血细胞，包括局部病变组织。尽管单细胞分析为疾病发病机制提供了宝贵的见解，但将单细胞研究结果转化为临床实践和制定个性化治疗策略仍然存在挑战。除了了解细胞多样性图谱之外，我们还讨论了每项研究中获得的数据在临床实践中的应用，重点是确定生物标志物和治疗靶点。