{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T05:06:50Z","timestamp":1785128810058,"version":"3.55.0"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,3,3]],"date-time":"2022-03-03T00:00:00Z","timestamp":1646265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["acrjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Arthritis &amp; Rheumatology"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>To identify patients with VEXAS syndrome (vacuoles, E1 enzyme, X\u2010linked, autoinflammatory, somatic syndrome) from a single\u2010center cohort of Italian patients with vasculitis, using a clinically oriented phenotype\u2010first approach.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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\u2010resistant 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\u2010activating enzyme E1 (UBA\u20101) was performed using genomic DNA from peripheral blood leukocytes or bone marrow tissue.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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\u20101 (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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To our knowledge, this is the first report of VEXAS syndrome associated with antineutrophil cytoplasmic antibody (ANCA)\u2013associated 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\u2010associated vasculitis reported herein warrants further investigation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/art.41992","type":"journal-article","created":{"date-parts":[[2021,10,7]],"date-time":"2021-10-07T20:50:56Z","timestamp":1633639856000},"page":"665-670","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":94,"title":["<scp>VEXAS<\/scp> Syndrome: A Case Series From a <scp>Single\u2010Center<\/scp> Cohort of Italian Patients With Vasculitis"],"prefix":"10.1002","volume":"74","author":[{"given":"Francesco","family":"Muratore","sequence":"first","affiliation":[{"name":"Azienda Unit\u00e0 Sanitaria Locale\u2010IRCCS di Reggio Emilia  Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Marvisi","sequence":"additional","affiliation":[{"name":"Azienda Unit\u00e0 Sanitaria Locale\u2010IRCCS di Reggio Emilia, Reggio Emilia, Italy, and Universit\u00e0 di Modena e Reggio Emilia  Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Castrignan\u00f2","sequence":"additional","affiliation":[{"name":"Azienda Unit\u00e0 Sanitaria Locale\u2010IRCCS di Reggio Emilia, Reggio Emilia, Italy, and Universit\u00e0 di Modena e Reggio Emilia  Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Nicoli","sequence":"additional","affiliation":[{"name":"Azienda Unit\u00e0 Sanitaria Locale\u2010IRCCS di Reggio Emilia  Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Farnetti","sequence":"additional","affiliation":[{"name":"Azienda Unit\u00e0 Sanitaria Locale\u2010IRCCS di Reggio Emilia  Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orsola","family":"Bonanno","sequence":"additional","affiliation":[{"name":"Azienda Unit\u00e0 Sanitaria Locale\u2010IRCCS di Reggio Emilia  Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosina","family":"Longo","sequence":"additional","affiliation":[{"name":"Azienda Unit\u00e0 Sanitaria Locale\u2010IRCCS di Reggio Emilia  Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piera","family":"Zaldini","sequence":"additional","affiliation":[{"name":"Azienda Unit\u00e0 Sanitaria Locale\u2010IRCCS di Reggio Emilia  Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Galli","sequence":"additional","affiliation":[{"name":"Azienda Unit\u00e0 Sanitaria Locale\u2010IRCCS di Reggio Emilia, Reggio Emilia, Italy, and Universit\u00e0 di Modena e Reggio Emilia  Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Balanda","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute NIH  Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David B.","family":"Beck","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute NIH  Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8269-9438","authenticated-orcid":false,"given":"Peter C.","family":"Grayson","sequence":"additional","affiliation":[{"name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases NIH  Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicol\u00f2","family":"Pipitone","sequence":"additional","affiliation":[{"name":"Azienda Unit\u00e0 Sanitaria Locale\u2010IRCCS di Reggio Emilia  Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Boiardi","sequence":"additional","affiliation":[{"name":"Azienda Unit\u00e0 Sanitaria Locale\u2010IRCCS di Reggio Emilia  Reggio Emilia 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