biostudies-literatureUnknown28(5)Wang SNational Natural Science Foundation of ChinaWilson disease (WD) is caused by mutations of the copper-transporting gene, <i>ATP7B</i>, leading to abnormal copper metabolism. A better characterization of WD is essential in understanding the effects of excess copper and how it disrupts immune regulation and hematopoietic development. Furthermore, the exploration of the relationship between copper-mediated proliferation or cuproptosis and immune regulation is critical for developing new immune therapies. Therefore, we performed single-cell RNA sequencing (scRNA-seq) on peripheral blood mononuclear cells (PBMCs) to develop an atlas of the immune landscape. Cells were clustered into several immune subsets, and cuproptosis-associated genes were assessed. Differential expression analysis was performed to identify WD-specific signatures by ciScience112450https://www.ebi.ac.uk/biostudies/studies/S-EPMC12084004biostudies-literatureA single-cell transcriptomic atlas of immune cells in Wilson disease identifies copper-specific immune regulation.PMC12084004Li JLi CXin QZhang HYan SSun XGuo RZhao XJiang YQiu ZSun NLi YYin FJue BWang SYue BGao YChen YFu LXue MWang XShi JQin BfalseA single-cell transcriptomic atlas of immune cells in Wilson disease identifies copper-specific immune regulation.Wilson disease (WD) is caused by mutations of the copper-transporting gene, <i>ATP7B</i>, leading to abnormal copper metabolism. A better characterization of WD is essential in understanding the effects of excess copper and how it disrupts immune regulation and hematopoietic development. Furthermore, the exploration of the relationship between copper-mediated proliferation or cuproptosis and immune regulation is critical for developing new immune therapies. Therefore, we performed single-cell RNA sequencing (scRNA-seq) on peripheral blood mononuclear cells (PBMCs) to develop an atlas of the immune landscape. Cells were clustered into several immune subsets, and cuproptosis-associated genes were assessed. Differential expression analysis was performed to identify WD-specific signatures by c2025-01-01T00:00:00Z2025 May2026-06-01T23:01:39.176Z2026-05-23T03:08:16.304ZS-EPMC120840044038493510.1016/j.isci.2025.112450