{"doi":"10.1002/art.41992","title":"<scp>VEXAS</scp> Syndrome: A Case Series From a <scp>Single‐Center</scp> Cohort of Italian Patients With Vasculitis","abstract":"OBJECTIVE: To identify patients with VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) from a single-center cohort of Italian patients with vasculitis, using a clinically oriented phenotype-first approach. METHODS: We retrospectively reviewed the clinical records of 147 consecutive male patients followed up in our vasculitis clinic from 2013 to date. All patients with a diagnosis of vasculitis and treatment-resistant manifestations of inflammation, persistently elevated inflammation markers, and hematologic abnormalities were identified. Bone marrow aspirates were examined for the presence of vacuoles. Sequencing of ubiquitin-activating enzyme E1 (UBA-1) was performed using genomic DNA from peripheral blood leukocytes or bone marrow tissue. RESULTS: Seven patients with vasculitis and concomitant features of VEXAS syndrome were identified. A final diagnosis of VEXAS syndrome was made in 3 of the 5 patients who underwent sequencing of UBA-1 (diagnosis was made postmortem for 1 patient). In all 3 patients, examination of the bone marrow aspirate revealed vacuoles characteristic of VEXAS syndrome, and all 3 patients met the definitive World Health Organization criteria for myelodysplastic syndrome. Cytogenetic analysis showed normal karyotypes in all 3 patients. CONCLUSION: To our knowledge, this is the first report of VEXAS syndrome associated with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis. Our data emphasize the need to consider VEXAS syndrome when evaluating patients with various forms of systemic vasculitis. The novel association between VEXAS syndrome and ANCA-associated vasculitis reported herein warrants further investigation.","journal":"Arthritis & Rheumatology","year":2021,"id":150278,"datarank":5.078807332563375,"base_score":4.564348191467836,"endowment":4.564348191467836,"self_citation_contribution":0.6846522287201755,"citation_network_contribution":4.3941551038432,"self_endowment_contribution":0.6846522287201755,"citer_contribution":4.3941551038432,"corpus_percentile":95.83043242825094,"corpus_rank":540,"citation_count":95,"citer_count":88,"citers_with_citation_signal":66,"citers_with_endowment":66,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.7928,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":638763,"name":"Chiara Marvisi","orcid":"0000-0001-7027-1410","position":1,"is_corresponding":false},{"id":639687,"name":"Paola Castrignanò","orcid":null,"position":2,"is_corresponding":false},{"id":638764,"name":"Davide Nicoli","orcid":"0009-0000-6881-0366","position":3,"is_corresponding":false},{"id":638765,"name":"Enrico Farnetti","orcid":"0000-0002-7858-1867","position":4,"is_corresponding":false},{"id":639688,"name":"Orsola Bonanno","orcid":null,"position":5,"is_corresponding":false},{"id":639689,"name":"Rosina Longo","orcid":null,"position":6,"is_corresponding":false},{"id":639690,"name":"Piera Zaldini","orcid":null,"position":7,"is_corresponding":false},{"id":638766,"name":"Elena Galli","orcid":"0000-0002-4619-4563","position":8,"is_corresponding":false},{"id":218224,"name":"Nicholas Balanda","orcid":"0000-0002-8466-5944","position":9,"is_corresponding":false},{"id":218218,"name":"David B. Beck","orcid":"0000-0002-5884-6231","position":10,"is_corresponding":false},{"id":5958,"name":"Peter C. Grayson","orcid":"0000-0002-8269-9438","position":11,"is_corresponding":false},{"id":638767,"name":"Nicolò Pipitone","orcid":"0000-0002-2002-7185","position":12,"is_corresponding":false},{"id":639691,"name":"Luigi Boiardi","orcid":null,"position":13,"is_corresponding":false},{"id":638768,"name":"Carlo Salvarani","orcid":"0000-0003-3708-3148","position":14,"is_corresponding":false},{"id":409498,"name":"Francesco Muratore","orcid":"0000-0003-0362-2668","position":0,"is_corresponding":true}],"reference_count":13,"raw_metadata":null,"created_at":"2026-07-18T23:43:01.325389Z","pmid":"34611997","pmcid":"PMC8957507","fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}