biostudies-literaturede Cevins CAgence Nationale de la RechercheUniversité de ParisInstitut National de la Santé et de la Recherche MédicaleSanofi USFondation pour la Recherche MédicaleFondation Bettencourt Schueller101333https://www.ebi.ac.uk/biostudies/studies/S-EPMC10772457biostudies-literatureUnknown4(12)Gain-of-function mutations in stimulator of interferon gene 1 (STING1) result in STING-associated vasculopathy with onset in infancy (SAVI), a severe autoinflammatory disease. Although elevated type I interferon (IFN) production is thought to be the leading cause of the symptoms observed in patients, STING can induce a set of pathways, which have roles in the onset and severity of SAVI and remain to be elucidated. To this end, we performed a multi-omics comparative analysis of peripheral blood mononuclear cells (PBMCs) and plasma from SAVI patients and healthy controls, combined with a dataset of healthy PBMCs treated with IFN-β. Our data reveal a subset of disease-associated monocyte, expressing elevated CCL3, CCL4, and IL-6, as well as a strong integrated stress response, which we suggesCell reports. MedicineSingle-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response.PMC10772457ANR-18-RHUS-0010EQU202103012670ANR-10-IAHU-01Hoareau BPerot BPBatignes MQuartier PGarcia-Paredes VPierre PAlain FMenager MMParisot MRiller QRieux-Laucat FCarbone FBoussard CAuge FDelage LMeunier CFremond MLDidier MGuillemot JCRemaury ANal BCanard Lde Cevins CNeven BZarhrate MMasson CFali TGalliot LBelot ABoldina GSorin BCrickx EBader-Meunier BLuka MfalseSingle-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response.Gain-of-function mutations in stimulator of interferon gene 1 (STING1) result in STING-associated vasculopathy with onset in infancy (SAVI), a severe autoinflammatory disease. Although elevated type I interferon (IFN) production is thought to be the leading cause of the symptoms observed in patients, STING can induce a set of pathways, which have roles in the onset and severity of SAVI and remain to be elucidated. To this end, we performed a multi-omics comparative analysis of peripheral blood mononuclear cells (PBMCs) and plasma from SAVI patients and healthy controls, combined with a dataset of healthy PBMCs treated with IFN-β. Our data reveal a subset of disease-associated monocyte, expressing elevated CCL3, CCL4, and IL-6, as well as a strong integrated stress response, which we sugges2023-01-01T00:00:00Z2023 Dec2026-07-15T10:39:36.025Z2025-04-06T13:11:52.205ZS-EPMC107724573811840710.1016/j.xcrm.2023.101333