{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T18:28:12Z","timestamp":1783103292363,"version":"3.54.6"},"reference-count":14,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,4,4]],"date-time":"2025-04-04T00:00:00Z","timestamp":1743724800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,4,4]],"date-time":"2025-04-04T00:00:00Z","timestamp":1743724800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Medicine High Impact Case Reports"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:p>VEXAS syndrome, a myeloid-driven autoinflammatory disorder associated with somatic mutations in the UBA1 gene, was first described in 2020 and presents significant diagnostic challenges due to its complex clinical features, including hematological abnormalities and autoimmune manifestations. We describe a case involving a 64-year-old male presenting with persistent anemia, weight loss, fatigue, fever, and recurrent inflammatory symptoms. Diagnostic workup, including imaging, serology, and bone marrow biopsy, revealed characteristic findings, including myeloid hyperplasia, and vacuolization in precursor cells. Genetic testing identified a UBA1 gene mutation, solidifying the diagnosis of VEXAS syndrome. The patient responded to immunosuppressive treatment with prednisone and ruxolitinib, with significant improvement in symptoms. This case tells us the importance of considering VEXAS syndrome in patients with refractory systemic inflammation and hematological abnormalities, particularly in older males. Early recognition and genetic testing are crucial for guiding treatment decisions, as the condition is progressive, often relapsing, and requires multidisciplinary management.<\/jats:p>","DOI":"10.1177\/23247096251325416","type":"journal-article","created":{"date-parts":[[2025,4,4]],"date-time":"2025-04-04T05:08:50Z","timestamp":1743743330000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["The Challenging and Unique Diagnosis of VEXAS Syndrome: A Case Report"],"prefix":"10.1177","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7183-5940","authenticated-orcid":false,"given":"Jowan","family":"Al-Nusair","sequence":"first","affiliation":[{"name":"Marshall University, Huntington, WV, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia","family":"Lim","sequence":"additional","affiliation":[{"name":"Marshall University, Huntington, WV, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leena","family":"Alhusari","sequence":"additional","affiliation":[{"name":"Marshall University, Huntington, WV, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelwahap","family":"Elghezewi","sequence":"additional","affiliation":[{"name":"Marshall University, Huntington, WV, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud","family":"Abdallah","sequence":"additional","affiliation":[{"name":"Marshall University, Huntington, WV, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Alshal","sequence":"additional","affiliation":[{"name":"Marshall University, Huntington, WV, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toni","family":"Pacioles","sequence":"additional","affiliation":[{"name":"Marshall University, Huntington, WV, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,4,4]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2026834"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.reuma.2023.10.006"},{"issue":"26","key":"e_1_3_2_4_2","first-page":"3591","article-title":"VEXAS syndrome","volume":"137","author":"Grayson PC","year":"2021","unstructured":"Grayson PC, Patel BA, Young NS, et al VEXAS syndrome. Blood. 2021;137(26):3591-3594.","journal-title":"Blood"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2022.24836"},{"issue":"1","key":"e_1_3_2_6_2","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 O","year":"2024","unstructured":"Kosmider O, Poss\u00e9m\u00e9 C, Templ\u00e9 M, et al VEXAS syndrome is characterized by inflammasome activation and monocyte dysregulation. Nat Commun. 2024;15(1):910.","journal-title":"Nat Commun"},{"issue":"5","key":"e_1_3_2_7_2","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/nrm2673","article-title":"Ubiquitin-like protein activation by E1 enzymes: the apex for downstream signaling pathways","volume":"10","author":"Schulman BA","year":"2009","unstructured":"Schulman BA, Harper JW, et al Ubiquitin-like protein activation by E1 enzymes: the apex for downstream signaling pathways. Nat Rev Mol Cell Biol. 2009;10(5):319-331.","journal-title":"Nat Rev Mol Cell Biol"},{"key":"e_1_3_2_8_2","doi-asserted-by":"crossref","first-page":"105746","DOI":"10.1016\/j.biocel.2020.105746","article-title":"The pivotal role of ubiquitin-activating enzyme E1 (UBA1) in neuronal health and neurodegeneration","volume":"123","author":"Lambert-Smith IA","year":"2020","unstructured":"Lambert-Smith IA, Saunders DN, Yerbury JJ. The pivotal role of ubiquitin-activating enzyme E1 (UBA1) in neuronal health and neurodegeneration. Int J Biochem Cell Biol. 2020;123:105746.","journal-title":"Int J Biochem Cell Biol"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2022.24836"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2021004976"},{"key":"e_1_3_2_11_2","doi-asserted-by":"crossref","first-page":"1377768","DOI":"10.3389\/fmed.2024.1377768","article-title":"Case report: cerebral sinus vein thrombosis in VEXAS syndrome","volume":"11","author":"Zisapel M","year":"2024","unstructured":"Zisapel M, Seyman E, Molad J, et al Case report: cerebral sinus vein thrombosis in VEXAS syndrome. Front Med (Lausanne). 2024;11:1377768.","journal-title":"Front Med (Lausanne)"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1177\/15353702231165030"},{"issue":"11","key":"e_1_3_2_13_2","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 Z","year":"2023","unstructured":"Boyadzhieva Z, Ruffer N, K\u00f6tter I, et al How to treat VEXAS syndrome: a systematic review on effectiveness and safety of current treatment strategies. Rheumatology (Oxford). 2023;62(11):3518-3525.","journal-title":"Rheumatology (Oxford)"},{"issue":"2","key":"e_1_3_2_14_2","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1097\/MOH.0000000000000750","article-title":"VEXAS: where do we stand 2 years later?","volume":"30","author":"Sujobert P","year":"2023","unstructured":"Sujobert P, Heiblig M, Jamilloux Y, et al VEXAS: where do we stand 2 years later? Curr Opin Hematol. 2023;30(2):64-69.","journal-title":"Curr Opin Hematol"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2022016642"}],"container-title":["Journal of Investigative Medicine High Impact Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/23247096251325416","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/23247096251325416","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/23247096251325416","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T08:04:22Z","timestamp":1777449862000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/23247096251325416"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,4]]},"references-count":14,"alternative-id":["10.1177\/23247096251325416"],"URL":"https:\/\/doi.org\/10.1177\/23247096251325416","relation":{},"ISSN":["2324-7096","2324-7096"],"issn-type":[{"value":"2324-7096","type":"print"},{"value":"2324-7096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,4]]},"article-number":"23247096251325416"}}