Endothelial Cell Expression of STING Gain-of-Function Mutation Delays the Resolution of UVB-induced Skin Injury
Document Type
Article
Publication Title
bioRxiv : the preprint server for biology
Abstract
Gain-of-function mutations in STimulator of INterferon Genes (STING) cause STING-Associated Vasculopathy with Onset in Infancy (SAVI), a rare autoinflammatory disease characterized by debilitating inflammatory lung disease and hallmark skin manifestations, such as chilblains and progressive, non-healing ulcers. Mice expressing the most common SAVI-associated variant STING (VM) recapitulate many clinical features of SAVI, including inflammatory lung disease, but do not develop spontaneous skin lesions. In this study, we show that a single low dose of ultraviolet B (UVB) irradiation, which induces only transient skin inflammation in wild-type (WT) mice, causes severe and progressive skin injury in VM mice. Notably, this phenotype persisted in VM mice depleted of hematopoietic cells and reconstituted with WT bone marrow, demonstrating that STING expression in non-hematopoietic cells is sufficient to drive persistent skin inflammation. Further analysis identified endothelial cells expressing STING as the primary driver of the cutaneous phenotype. Flow cytometry and bulk RNA sequencing showed that VM mice exhibited reduced early skin infiltration of macrophages and dendritic cells after UVB exposure. These findings establish a critical link between endothelial STING activation, impaired recruitment of skin myeloid cells, and defective resolution of acute inflammation, offering new insights into the pathogenesis of SAVI-associated skin disease.
DOI
10.1101/2025.07.14.664621
Publication Date
7-18-2025
Recommended Citation
Chuprin, Jane; Lopes, Carolina Salomāo; Gao, Kevin MingJie; Chiang, Kristy; Afshari, Khashayar; Haddadi, Nazgol; Garber, Manuel; Koupenova, Milka; Fitzgerald, Katherine A.; Marshak-Rothstein, Ann; and Rashighi, Mehdi, "Endothelial Cell Expression of STING Gain-of-Function Mutation Delays the Resolution of UVB-induced Skin Injury" (2025). Internal Medicine. 288.
https://scholar.bridgeporthospital.org/internal_medicine/288
Identifier
40791446 (pubmed); PMC12338686 (pmc); 10.1101/2025.07.14.664621 (doi); 2025.07.14.664621 (pii)