{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T10:15:08Z","timestamp":1778062508189,"version":"3.51.4"},"reference-count":17,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T00:00:00Z","timestamp":1778025600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of Hunan Province","doi-asserted-by":"publisher","award":["2023JJ60349"],"award-info":[{"award-number":["2023JJ60349"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome represents a recently identified systemic condition, and its diagnosis and management carry significant clinical ramifications. Despite advancements in understanding the clinical features and pathological mechanisms associated with this syndrome, challenges related to underdiagnosis persist. To date, there have been no reported large-scale prospective studies on this syndrome, and effective, sustained treatment strategies remain undeveloped, contributing to the poor overall prognosis. Consequently, it is crucial to enhance the awareness of this syndrome, delineate its clinical characteristics and associated laboratory indicators, and bolster the capacity for early identification and diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This case report seeks to examine the diagnostic approach to VEXAS syndrome from a laboratory technician\u2019s standpoint, underscoring the necessity for early recognition.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The patient in this case exhibited characteristic clinical manifestations, including fever, rash, arthritis, and hematological irregularities. The diagnosis of VEXAS syndrome was established in conjunction with pertinent laboratory findings.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>Through this report, we aim to advance the understanding of VEXAS syndrome and enhance the proficiency of laboratory physicians in recognizing the condition in their routine practice, thereby facilitating early diagnosis and treatment for patients and improving overall prognostic outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fimmu.2026.1809632","type":"journal-article","created":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T09:37:41Z","timestamp":1778060261000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["VEXAS Syndrome for the laboratory physician: a case report"],"prefix":"10.3389","volume":"17","author":[{"given":"Chaoying","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, The First Affiliated Hospital of Hunan Traditional Chinese Medical College (Hunan Provincial Directly Affiliated Hospital of Traditional Chinese Medicine)","place":["Zhuzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miaomiao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Radiology, Zhuzhou Central Hospital","place":["Zhuzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tieqiao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, The First Affiliated Hospital of Hunan Traditional Chinese Medical College (Hunan Provincial Directly Affiliated Hospital of Traditional Chinese Medicine)","place":["Zhuzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Radiology, The First Affiliated Hospital of Hunan Traditional Chinese Medical College (Hunan Provincial Directly Affiliated Hospital of Traditional Chinese Medicine)","place":["Zhuzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingzhi","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, The First Affiliated Hospital of Hunan Traditional Chinese Medical College (Hunan Provincial Directly Affiliated Hospital of Traditional Chinese Medicine)","place":["Zhuzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yixi","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, The First Affiliated Hospital of Hunan Traditional Chinese Medical College (Hunan Provincial Directly Affiliated Hospital of Traditional Chinese Medicine)","place":["Zhuzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoming","family":"Yi","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, The First Affiliated Hospital of Hunan Traditional Chinese Medical College (Hunan Provincial Directly Affiliated Hospital of Traditional Chinese Medicine)","place":["Zhuzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuguang","family":"He","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, The First Affiliated Hospital of Hunan Traditional Chinese Medical College (Hunan Provincial Directly Affiliated Hospital of Traditional Chinese Medicine)","place":["Zhuzhou, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,5,6]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","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":"B2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.26931","article-title":"Peripheral blood cells vacuoles in VEXAS syndrome","volume":"98","author":"Tosato","year":"2023","journal-title":"Am J Hematol"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/j.semarthrit.2026.152932","article-title":"VEXAS syndrome and cancer: Insights about a possible \u201ctip of the iceberg\u201d. Ambidirectional data from the international AIDA network registries","volume":"77","author":"Gavioli","year":"2026","journal-title":"Semin Arthritis Rheumatism"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbspin.2024.105700","article-title":"VEXAS syndrome: An update","volume":"91","author":"Khitri","year":"2024","journal-title":"Joint Bone Spine"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1016\/s2352-3026(23)00375-7","article-title":"Vacuoles in bone marrow progenitors: VEXAS syndrome and beyond","volume":"11","author":"Lacombe","year":"2024","journal-title":"Lancet Haematology"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/kead245","article-title":"Targeted testing of bone marrow specimens with cytoplasmic vacuolization to identify previously undiagnosed cases of VEXAS syndrome","volume":"62","author":"Hines","year":"2023","journal-title":"Rheumatol (Oxford England)"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.20805","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":"186","author":"Georgin-Lavialle","year":"2022","journal-title":"Br J Dermatol"},{"key":"B8","doi-asserted-by":"publisher","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":"B9","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2023022329","article-title":"Venous and arterial thrombosis in patients with VEXAS syndrome","volume":"143","author":"Kusne","year":"2024","journal-title":"Blood"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2022.10.011","article-title":"Pleuropulmonary manifestations of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome","volume":"163","author":"Borie","year":"2023","journal-title":"Chest"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-023-01857-5","article-title":"Novel causative variants of VEXAS in UBA1 detected through whole genome transcriptome sequencing in a large cohort of hematological Malignancies","volume":"37","author":"Sakuma","year":"2023","journal-title":"Leukemia"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-021-00920-0","article-title":"Genomic and evolutionary classification of lung cancer in never smokers","volume":"53","author":"Zhang","year":"2021","journal-title":"Nat Genet"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ard.2025.05.021","article-title":"Disease trajectories and glucocorticoid exposure in VEXAS syndrome treated with cytokine-directed therapies","volume":"85","author":"Turturice","year":"2026","journal-title":"Ann Rheumatic Dis"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1002\/art.43287","article-title":"American College of Rheumatology guidance statement for diagnosis and management of VEXAS developed by the International VEXAS Working Group Expert Panel","volume":"78","author":"Mekinian","year":"2026","journal-title":"Arthritis Rheumatol (Hoboken NJ)"},{"key":"B15","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1097\/BOR.0000000000001068","article-title":"VEXAS syndrome: An adult-onset autoinflammatory disorder with underlying somatic mutation","volume":"37","author":"K\u00f6tter","year":"2025","journal-title":"Curr Opin Rheumatol"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2022.24836","article-title":"Estimated prevalence and clinical manifestations of UBA1 variants associated with VEXAS syndrome in a clinical population","volume":"329","author":"Beck","year":"2023","journal-title":"Jama"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1016\/s0140-6736(25)02164-6","article-title":"VEXAS syndrome: A comprehensive review of pathogenesis, clinical spectrum, and therapeutic strategies","volume":"407","author":"Groarke","year":"2026","journal-title":"Lancet (London England)"}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fimmu.2026.1809632\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T09:37:42Z","timestamp":1778060262000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fimmu.2026.1809632\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,6]]},"references-count":17,"alternative-id":["10.3389\/fimmu.2026.1809632"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2026.1809632","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,6]]},"article-number":"1809632"}}