{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["de Cevins C"],"funding":["Agence Nationale de la Recherche","Université de Paris","Institut National de la Santé et de la Recherche Médicale","Sanofi US","Fondation pour la Recherche Médicale","Fondation Bettencourt Schueller"],"pagination":["101333"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10772457"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["4(12)"],"pubmed_abstract":["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 sugges"],"journal":["Cell reports. Medicine"],"pubmed_title":["Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response."],"pmcid":["PMC10772457"],"funding_grant_id":["ANR-18-RHUS-0010","EQU202103012670","ANR-10-IAHU-01"],"pubmed_authors":["Hoareau B","Perot BP","Batignes M","Quartier P","Garcia-Paredes V","Pierre P","Alain F","Menager MM","Parisot M","Riller Q","Rieux-Laucat F","Carbone F","Boussard C","Auge F","Delage L","Meunier C","Fremond ML","Didier M","Guillemot JC","Remaury A","Nal B","Canard L","de Cevins C","Neven B","Zarhrate M","Masson C","Fali T","Galliot L","Belot A","Boldina G","Sorin B","Crickx E","Bader-Meunier B","Luka M"],"additional_accession":[]},"is_claimable":false,"name":"Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response.","description":"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 sugges","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Dec","modification":"2026-07-15T10:39:36.025Z","creation":"2025-04-06T13:11:52.205Z"},"accession":"S-EPMC10772457","cross_references":{"pubmed":["38118407"],"doi":["10.1016/j.xcrm.2023.101333"]}}