{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["11(4)"],"submitter":["de Maleprade B"],"pubmed_abstract":["<h4>Objective</h4>To describe the joint manifestations associated with clonal haematopoiesis and to compare patients with and without VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.<h4>Methods</h4>Patients screened for <i>UBA1</i> mutations between December 2019 and January 2023 in 7 Normandie (France) hospitals were recruited retrospectively.<h4>Results</h4>Thirty patients with a haematological disorder associated with dysimmune manifestations were included: 17 (57%) without <i>UBA1</i> mutations (non-VEXAS) and 13 (43%) with <i>UBA1</i> mutations (VEXAS). Thirteen (77%) non-VEXAS patients had joint involvement (arthralgia/arthritis), compared with 4 (31%) VEXAS patients (p value: 0.016). Unsupervised clustering using hierarchical clustering identified two clust"],"journal":["RMD open"],"pagination":["e006074"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12574337"],"repository":["biostudies-literature"],"pubmed_title":["Joint involvement in VEXAS and non-VEXAS clonal haematopoiesis: two clusters from a multicentre regional cohort."],"pmcid":["PMC12574337"],"pubmed_authors":["Stamatoullas-Bastard A","Langlois V","Jastrzebski F","Sauvetre G","Armengol G","Avenel M","Lequerre T","de Maleprade B","Benhamou Y","Jardin F","Brevet P","Vittecoq O","Curie A","Membrey B"],"additional_accession":[]},"is_claimable":false,"name":"Joint involvement in VEXAS and non-VEXAS clonal haematopoiesis: two clusters from a multicentre regional cohort.","description":"<h4>Objective</h4>To describe the joint manifestations associated with clonal haematopoiesis and to compare patients with and without VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.<h4>Methods</h4>Patients screened for <i>UBA1</i> mutations between December 2019 and January 2023 in 7 Normandie (France) hospitals were recruited retrospectively.<h4>Results</h4>Thirty patients with a haematological disorder associated with dysimmune manifestations were included: 17 (57%) without <i>UBA1</i> mutations (non-VEXAS) and 13 (43%) with <i>UBA1</i> mutations (VEXAS). Thirteen (77%) non-VEXAS patients had joint involvement (arthralgia/arthritis), compared with 4 (31%) VEXAS patients (p value: 0.016). Unsupervised clustering using hierarchical clustering identified two clust","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Oct","modification":"2026-06-05T07:34:45.188Z","creation":"2026-05-14T03:12:36.566Z"},"accession":"S-EPMC12574337","cross_references":{"pubmed":["41167634"],"doi":["10.1136/rmdopen-2025-006074"]}}