{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T22:32:10Z","timestamp":1759530730201,"version":"3.37.3"},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T00:00:00Z","timestamp":1711411200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>A 46-year-old male patient presented with inflammatory diseases over more than 3 years. The patient suffered from recurrent pleuritis, polychondritis, orbital phlegmon, fever, and skin lesions. A bone marrow puncture added myelodysplastic syndrome to the patient\u2019s history. A focused cytomorphological reinvestigation of the archived bone marrow aspirate smears detected significant vacuolization of erythroid and myeloid precursor cells. Target sequencing revealed the UBA1 (p.Met41Thr) hotspot mutation that established the diagnosis of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.<\/jats:p>","DOI":"10.1093\/labmed\/lmae020","type":"journal-article","created":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T05:18:57Z","timestamp":1711516737000},"page":"655-657","source":"Crossref","is-referenced-by-count":2,"title":["Bone marrow reinvestigation leading to the diagnosis of VEXAS syndrome"],"prefix":"10.1093","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5242-4660","authenticated-orcid":false,"given":"Bernhard","family":"Strasser","sequence":"first","affiliation":[{"name":"Institute of Clinical Chemistry and Laboratory Medicine , Klinikum Wels-Grieskirchen, Wels , Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"Kranewitter","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I , Klinikum Wels-Grieskirchen, Wels , Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harald","family":"Hofer","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I , Klinikum Wels-Grieskirchen, Wels , Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Haushofer","sequence":"additional","affiliation":[{"name":"Institute of Clinical Chemistry and Laboratory Medicine , Klinikum Wels-Grieskirchen, Wels , Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,3,26]]},"reference":[{"key":"2024090405514813200_CIT0001","first-page":"2628","article-title":"Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease","volume-title":"N Engl J Med.","author":"Beck","year":"2020"},{"key":"2024090405514813200_CIT0002","first-page":"318","article-title":"Estimated prevalence and clinical manifestations of UBA1 variants associated with VEXAS syndrome in a clinical population","volume-title":"JAMA.","author":"Beck","year":"2023"},{"key":"2024090405514813200_CIT0003","first-page":"711","article-title":"VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases","volume-title":"Intern Emerg Med.","author":"Vitale","year":"2023"},{"key":"2024090405514813200_CIT0004","first-page":"2653","article-title":"Clinical heterogeneity of the VEXAS syndrome: a case series","volume-title":"Mayo Clin Proc.","author":"Koster","year":"2021"},{"key":"2024090405514813200_CIT0005","first-page":"424","article-title":"The continued need for the routine assessment of folate status","volume-title":"Lab Med","author":"Osa-Andrews","year":"2023"},{"key":"2024090405514813200_CIT0006","first-page":"204","article-title":"Characteristic bone marrow findings in patients with UBA1 somatic mutations and VEXAS syndrome","volume-title":"Semin Hematol.","author":"Patel","year":"2021"},{"key":"2024090405514813200_CIT0007","first-page":"564","article-title":"Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients","volume-title":"Br J Dermatol.","author":"Georgin-Lavialle","year":"2022"},{"key":"2024090405514813200_CIT0008","first-page":"1080","article-title":"Novel causative variants of VEXAS in UBA1 detected through whole genome transcriptome sequencing in a large cohort of hematological malignancies","volume-title":"Leukemia.","author":"Sakuma","year":"2023"},{"key":"2024090405514813200_CIT0009","first-page":"244","article-title":"Spectrum of clonal hematopoiesis in VEXAS syndrome","volume-title":"Blood.","author":"Gutierrez-Rodrigues","year":"2023"}],"container-title":["Laboratory Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/labmed\/article-pdf\/55\/5\/655\/58985582\/lmae020.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/labmed\/article-pdf\/55\/5\/655\/58985582\/lmae020.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,4]],"date-time":"2024-09-04T23:33:20Z","timestamp":1725492800000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/labmed\/article\/55\/5\/655\/7635085"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,26]]},"references-count":9,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,3,26]]},"published-print":{"date-parts":[[2024,9,4]]}},"URL":"https:\/\/doi.org\/10.1093\/labmed\/lmae020","relation":{},"ISSN":["0007-5027","1943-7730"],"issn-type":[{"type":"print","value":"0007-5027"},{"type":"electronic","value":"1943-7730"}],"subject":[],"published-other":{"date-parts":[[2024,9]]},"published":{"date-parts":[[2024,3,26]]}}}