{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T09:52:05Z","timestamp":1781949125904,"version":"3.54.5"},"reference-count":19,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2024,9,25]],"date-time":"2024-09-25T00:00:00Z","timestamp":1727222400000},"content-version":"vor","delay-in-days":268,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,14]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Differentiating VEXAS syndrome from cases of canonical forms of primary vasculitis remains a significant clinical challenge, particularly for ANCA-associated vasculitis (AAV). We reviewed the clinical features of VEXAS as an AAV mimicker, while adding three new cases to the existing literature.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We identified three cases of VEXAS with an AAV phenotype in our institution. We performed a comprehensive literature search of available similar cases and summarized and compared the findings. Inclusion criterion was a positive UBA1 mutation analysis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Patient 1 was referred for evaluation of eosinophilic granulomatosis with polyangiitis (GPA), but had no active respiratory symptoms, despite CT imaging showing widespread ground-glass opacities. Patient 2 had no history of sinus disease, despite being referred under the diagnostic construct of limited GPA. Patient 3 developed a novel inflammatory syndrome suspected to represent GPA. Six other cases were identified upon literature review. In all the cases, the most common findings were pulmonary infiltrates (67%), skin involvement (55%) and ocular manifestations (44%). Additionally, 44% of cases had renal involvement, with half of them displaying kidney lesions resembling the typical AAV pattern.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>VEXAS can mimic different phenotypes of AAV and should be considered in atypical AAV presentations, especially when refractory to multiple treatments. Further studies are needed to explore the immunologic basis for an AAV phenotype within the spectrum of VEXAS.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/rap\/rkae116","type":"journal-article","created":{"date-parts":[[2024,9,25]],"date-time":"2024-09-25T18:02:02Z","timestamp":1727287322000},"source":"Crossref","is-referenced-by-count":6,"title":["VEXAS syndrome as a mimicker of ANCA-associated vasculitis"],"prefix":"10.1093","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8359-0100","authenticated-orcid":false,"given":"Franco","family":"Murillo-Chavez","sequence":"first","affiliation":[{"name":"Department of Medicine, Sinai Hospital of Baltimore , Baltimore, MD,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6166-9750","authenticated-orcid":false,"given":"Brendan","family":"Antiochos","sequence":"additional","affiliation":[{"name":"Division of Rheumatology, Department of Medicine, Johns Hopkins University School of Medicine , Baltimore, MD,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,9,25]]},"reference":[{"key":"2024101600051868400_rkae116-B1","doi-asserted-by":"crossref","first-page":"2628","DOI":"10.1056\/NEJMoa2026834","article-title":"Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease","volume":"383","author":"Beck","year":"2020","journal-title":"N Engl J Med"},{"key":"2024101600051868400_rkae116-B2","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1038\/s41467-024-44811-4","article-title":"VEXAS syndrome is characterized by inflammasome activation and monocyte dysregulation","volume":"15","author":"Kosmider","year":"2024","journal-title":"Nat Commun"},{"key":"2024101600051868400_rkae116-B3","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.1016\/j.jaci.2023.02.017","article-title":"Autoimmune manifestations in VEXAS: opportunities for integration and pitfalls to interpretation","volume":"151","author":"Bruno","year":"2023","journal-title":"J Allergy Clin Immunol"},{"key":"2024101600051868400_rkae116-B4","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1111\/1756-185X.14646","article-title":"What the genes tell us in the VEXAS syndrome? A rheumatologist\u2019s perspective","volume":"26","author":"Kobak","year":"2023","journal-title":"Int J Rheum Dis"},{"key":"2024101600051868400_rkae116-B5","doi-asserted-by":"crossref","first-page":"983939","DOI":"10.3389\/fmed.2022.983939","article-title":"Vasculitis associated with VEXAS syndrome: a literature review","volume":"9","author":"Watanabe","year":"2022","journal-title":"Front Med"},{"key":"2024101600051868400_rkae116-B6","doi-asserted-by":"crossref","first-page":"3518","DOI":"10.1093\/rheumatology\/kead240","article-title":"How to treat VEXAS syndrome: a systematic review on effectiveness and safety of current treatment strategies","volume":"62","author":"Boyadzhieva","year":"2023","journal-title":"Rheumatology (Oxford)"},{"key":"2024101600051868400_rkae116-B7","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1002\/art.41992","article-title":"VEXAS syndrome: a case series from a single-center cohort of Italian patients with vasculitis","volume":"74","author":"Muratore","year":"2022","journal-title":"Arthritis Rheumatol (Hoboken)"},{"key":"2024101600051868400_rkae116-B8","doi-asserted-by":"crossref","first-page":"2653","DOI":"10.1016\/j.mayocp.2021.06.006","article-title":"Clinical heterogeneity of the VEXAS syndrome: a case series","volume":"96","author":"Koster","year":"2021","journal-title":"Mayo Clin Proc"},{"key":"2024101600051868400_rkae116-B9","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1007\/s00403-022-02340-4","article-title":"VEXAS syndrome in dermatology","volume":"315","author":"Afsahi","year":"2023","journal-title":"Arch Dermatol Res"},{"key":"2024101600051868400_rkae116-B10","doi-asserted-by":"crossref","first-page":"1626","DOI":"10.3899\/jrheum.210149","article-title":"Somatic mutation in UBA1 and ANCA-associated vasculitis","volume":"48","author":"Ross","year":"2021","journal-title":"J Rheumatol"},{"key":"2024101600051868400_rkae116-B11","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.jaci.2021.05.014","article-title":"Adult-onset autoinflammation caused by somatic mutations in UBA1: a Dutch case series of patients with VEXAS","volume":"149","author":"van der Made","year":"2022","journal-title":"J Allergy Clin Immunol"},{"key":"2024101600051868400_rkae116-B12","doi-asserted-by":"crossref","first-page":"e110","DOI":"10.1093\/rheumatology\/kead536","article-title":"VEXAS syndrome with granulomatosis with polyangiitis manifestation: retained in remission using methotrexate and infliximab","volume":"63","author":"Oka","year":"2024","journal-title":"Rheumatology (Oxford)"},{"key":"2024101600051868400_rkae116-B13","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/s41572-020-0204-y","article-title":"ANCA-associated vasculitis","volume":"6","author":"Kitching","year":"2020","journal-title":"Nat Rev Dis Primers"},{"key":"2024101600051868400_rkae116-B14","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1016\/S0140-6736(23)01736-1","article-title":"Diagnosis and management of ANCA-associated vasculitis","volume":"403","author":"Kronbichler","year":"2024","journal-title":"Lancet"},{"key":"2024101600051868400_rkae116-B15","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/s41584-022-00778-4","article-title":"Disorders of ubiquitylation: unchained inflammation","volume":"18","author":"Beck","year":"2022","journal-title":"Nat Rev Rheumatol"},{"key":"2024101600051868400_rkae116-B16","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1007\/s11739-023-03193-z","article-title":"VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases","volume":"18","author":"Vitale","year":"2023","journal-title":"Intern Emerg Med"},{"key":"2024101600051868400_rkae116-B17","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1097\/RHU.0000000000001905","article-title":"VEXAS syndrome\u2014a review of pathophysiology, presentation, and prognosis","volume":"29","author":"Koster","year":"2023","journal-title":"J Clin Rheumatol"},{"key":"2024101600051868400_rkae116-B18","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1007\/s11239-021-02608-y","article-title":"Thrombosis in VEXAS syndrome","volume":"53","author":"Oo","year":"2022","journal-title":"J Thromb Thrombolysis"},{"key":"2024101600051868400_rkae116-B19","doi-asserted-by":"crossref","first-page":"e137866","DOI":"10.1172\/JCI137866","article-title":"Endoplasmic reticulum stress sensor IRE1\u03b1 propels neutrophil hyperactivity in lupus","volume":"131","author":"Sule","year":"2021","journal-title":"J Clin Invest"}],"container-title":["Rheumatology Advances in Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/rheumap\/advance-article-pdf\/doi\/10.1093\/rap\/rkae116\/59341513\/rkae116.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/rheumap\/article-pdf\/8\/4\/rkae116\/59765979\/rkae116.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/rheumap\/article-pdf\/8\/4\/rkae116\/59765979\/rkae116.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,16]],"date-time":"2024-10-16T00:06:20Z","timestamp":1729037180000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/rheumap\/article\/doi\/10.1093\/rap\/rkae116\/7775433"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,9,14]]}},"URL":"https:\/\/doi.org\/10.1093\/rap\/rkae116","relation":{},"ISSN":["2514-1775"],"issn-type":[{"value":"2514-1775","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024]]},"published":{"date-parts":[[2024]]},"article-number":"rkae116"}}