Anufrieva Ksenia S, Shahriari Neda, Gao Ce, Castillo Rochelle L, Liu Jessica, Prell Sean, Kazerounian Shideh, Afshari Khashayar, Kazakova Anastasia N, Theisen Erin, Bowman Teresa, LaChance Avery, Hashemi Kimberly, Korsunsky Ilya, Rashighi Mehdi, Vleugels Ruth Ann, Wei Kevin
Division of Rheumatology, Inflammation, and Immunity, Brigham and Women's Hospital at Harvard Medical School, Boston, MA, USA.
Department of Dermatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
bioRxiv. 2025 Mar 19:2025.03.19.644147. doi: 10.1101/2025.03.19.644147.
Adult-onset dermatomyositis (DM) is an autoimmune inflammatory myopathy with distinct cutaneous manifestations and a strong malignancy association. Through comparative analysis with cutaneous lupus erythematosus (CLE), our integrated spatial and single-cell transcriptomics analysis revealed unique immune and stromal niches associated with DM subtypes. Unexpectedly, we found an association between cancer-associated DM skin lesions and the presence of dispersed immune infiltrates enriched with macrophages, CD8+ T cells, plasma cells, and B cells with preserved vascular architecture. In contrast, non-cancer associated DM skin exhibited dense myeloid cell infiltrates, including neutrophils, monocytes, and macrophages, with elevated expression of IL1B and CXCL10 localized near injured vascular endothelia. Cytokines produced by these myeloid infiltrates together with local tissue hypoxia triggered dramatic stromal remodeling, leading to loss of vascular-associated fibroblasts. In addition to the CXCL10+ myeloid signature, non-cancer-associated DM skin with pDC presence showed the emergence of specific cellular pairs: PD-L1-expressing mregDCs and activated Tregs expressing NFKB2 and TNF receptors. While both DM and CLE showed strong interferon signatures, DM uniquely displayed IFN-β expression. Together, our study provides the first comprehensive spatial mapping of immune and stromal cells in adult-onset DM.
成人起病型皮肌炎(DM)是一种具有独特皮肤表现且与恶性肿瘤密切相关的自身免疫性炎性肌病。通过与皮肤红斑狼疮(CLE)进行比较分析,我们的综合空间和单细胞转录组学分析揭示了与DM亚型相关的独特免疫和基质微环境。出乎意料的是,我们发现与癌症相关的DM皮肤病变与富含巨噬细胞、CD8 + T细胞、浆细胞和B细胞且血管结构保留的分散免疫浸润的存在有关。相比之下,非癌症相关的DM皮肤表现出密集的髓样细胞浸润,包括中性粒细胞、单核细胞和巨噬细胞,IL1B和CXCL10在受损血管内皮附近表达升高。这些髓样浸润产生的细胞因子与局部组织缺氧共同引发了显著的基质重塑,导致血管相关成纤维细胞的丧失。除了CXCL10 +髓样特征外,存在浆细胞样树突状细胞(pDC)的非癌症相关DM皮肤显示出特定细胞对的出现:表达PD-L1的调节性树突状细胞(mregDC)和表达NFKB2和TNF受体的活化调节性T细胞(Treg)。虽然DM和CLE都显示出强烈的干扰素特征,但DM独特地表现出IFN-β表达。总之,我们的研究首次提供了成人起病型DM中免疫和基质细胞的全面空间图谱。