{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T16:28:17Z","timestamp":1780590497453,"version":"3.54.1"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,7,22]],"date-time":"2023-07-22T00:00:00Z","timestamp":1689984000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,7,22]],"date-time":"2023-07-22T00:00:00Z","timestamp":1689984000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome is a newly discovered inflammatory disease affecting male subjects, for which few data exist in the literature. Here, we describe the case of a patient with known Sweet\u2019s syndrome admitted to the intensive care unit and for whom a vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome was diagnosed, allowing for appropriate treatment and the patient\u2019s discharge and recovery.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 70-year-old male White patient was hospitalized in the intensive care unit following an intrahospital cardiac arrest. History started a year before with repeated deep vein thrombosis and episodes of skin eruption compatible with Sweet\u2019s syndrome. After a course of oral steroids, fever and inflammatory syndrome relapsed with onset of polychondritis, episcleritis along with neurological symptoms and pulmonary infiltrates. Intrahospital hypoxic cardiac arrest happened during patient\u2019s new investigations, and he was admitted in a critical state. During the intensive care unit stay, he presented with livedoid skin lesions on both feet. Vasculitis was not proven; however, cryoglobulinemia screening came back positive. Onset of pancytopenia was explored with a myelogram aspirate. It showed signs of dysmyelopoiesis and vacuoles in erythroid and myeloid precursors. Of note, new deep vein thrombosis developed, despite being treated with heparin leading to the diagnosis of heparin-induced thrombocytopenia. The course of symptoms were overlapping multiple entities, and so a multidisciplinary team discussion was implemented. Screening for<jats:italic> UBA1<\/jats:italic>-mutation in the blood came back positive, confirming the vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome. Corticosteroids and anti-IL1 infusion were started with satisfactory results supporting patient\u2019s discharge from intensive care unit to the internal medicine ward.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome should be suspected in male patients presenting with inflammatory symptoms,\u00a0such as fever, skin eruption, chondritis, venous thromboembolism, and vacuoles in bone marrow precursors. Patients with undiagnosed vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome may present with organ failure requiring hospitalization in intensive care unit, where screening for <jats:italic>UBA1<\/jats:italic> mutation should be performed when medical history is evocative. Multidisciplinary team involvement is highly recommended for patient management, notably to start appropriate immunosuppressive treatments.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-023-04034-5","type":"journal-article","created":{"date-parts":[[2023,7,22]],"date-time":"2023-07-22T00:01:49Z","timestamp":1689984109000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome in the intensive care unit: a\u00a0case report"],"prefix":"10.1186","volume":"17","author":[{"given":"F\u00e9licie","family":"Belicard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Belhomme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Bouzy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e9mence","family":"Saillard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Nedelec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Baptiste","family":"Mear","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Ardois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cedric","family":"Pastoret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Reizine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Camus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0320-9876","authenticated-orcid":false,"given":"Benoit","family":"Painvin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,7,22]]},"reference":[{"key":"4034_CR1","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1111\/bjd.20805","volume":"186","author":"S Georgin-Lavialle","year":"2022","unstructured":"Georgin-Lavialle S, Terrier B, Guedon AF, et\u00a0al. Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients. Br J Dermatol. 2022;186:564\u201374.","journal-title":"Br J Dermatol"},{"key":"4034_CR2","first-page":"3591","volume":"137","author":"PC Grayson","year":"2021","unstructured":"Grayson PC, Patel BA, Young NS. VEXAS syndrome. Blood. 2021;137:3591\u20134.","journal-title":"Blood"},{"key":"4034_CR3","doi-asserted-by":"publisher","first-page":"3682","DOI":"10.1182\/blood.2020010177","volume":"137","author":"E Bourbon","year":"2021","unstructured":"Bourbon E, Heiblig M, Gerfaud Valentin M, et\u00a0al. Therapeutic options in VEXAS syndrome: insights from a retrospective series. Blood. 2021;137:3682\u20134.","journal-title":"Blood"},{"key":"4034_CR4","doi-asserted-by":"publisher","first-page":"969","DOI":"10.1111\/bjh.17893","volume":"196","author":"T Comont","year":"2022","unstructured":"Comont T, Heiblig M, Rivi\u00e8re E, et\u00a0al. Azacitidine for patients with Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome (VEXAS) and myelodysplastic syndrome: data from the French VEXAS registry. Br J Haematol. 2022;196:969\u201374.","journal-title":"Br J Haematol"},{"key":"4034_CR5","doi-asserted-by":"publisher","first-page":"927","DOI":"10.1182\/blood.2022016642","volume":"140","author":"M Heiblig","year":"2022","unstructured":"Heiblig M, Ferrada MA, Koster MJ, et\u00a0al. Ruxolitinib is more effective than other JAK inhibitors to treat VEXAS syndrome: a retrospective multicenter study. Blood. 2022;140:927\u201331.","journal-title":"Blood"},{"key":"4034_CR6","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1186\/1750-1172-2-34","volume":"2","author":"PR Cohen","year":"2007","unstructured":"Cohen PR. Sweet\u2019s syndrome\u2014a comprehensive review of an acute febrile neutrophilic dermatosis. Orphanet J Rare Dis. 2007;2:34.","journal-title":"Orphanet J Rare Dis"},{"key":"4034_CR7","doi-asserted-by":"publisher","DOI":"10.1016\/j.resuscitation.2021.02.012","author":"JP Nolan","year":"2021","unstructured":"Nolan JP, Sandroni C, B\u00f6ttiger BW, et\u00a0al. European Resuscitation Council and European Society of Intensive Care Medicine guidelines 2021: post-resuscitation care. Resuscitation. 2021. https:\/\/doi.org\/10.1016\/j.resuscitation.2021.02.012.","journal-title":"Resuscitation"},{"key":"4034_CR8","doi-asserted-by":"publisher","first-page":"2628","DOI":"10.1056\/NEJMoa2026834","volume":"383","author":"DB Beck","year":"2020","unstructured":"Beck DB, Ferrada MA, Sikora KA, et\u00a0al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383:2628\u201338.","journal-title":"N Engl J Med"},{"key":"4034_CR9","doi-asserted-by":"crossref","unstructured":"UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review | Modern Rheumatology Case Reports | Oxford Academic. https:\/\/academic.oup.com\/mrcr\/article\/6\/1\/134\/6363921?login=true. Accessed 21 Feb 2022.","DOI":"10.1093\/mrcr\/rxab021"},{"key":"4034_CR10","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2021.05.014","author":"CI van der Made","year":"2021","unstructured":"van der Made CI, Potjewijd J, Hoogstins A, et\u00a0al. Adult-onset autoinflammation caused by somatic mutations in UBA1: a Dutch case series of VEXAS patients. J Allergy Clin Immunol. 2021. https:\/\/doi.org\/10.1016\/j.jaci.2021.05.014.","journal-title":"J Allergy Clin Immunol"},{"key":"4034_CR11","doi-asserted-by":"publisher","DOI":"10.1002\/art.41775","author":"N Takahashi","year":"2021","unstructured":"Takahashi N, Takeichi T, Nishida T, et\u00a0al. Extensive multiple organ involvement in VEXAS syndrome. Arthritis Rheumatol. 2021. https:\/\/doi.org\/10.1002\/art.41775.","journal-title":"Arthritis Rheumatol"},{"key":"4034_CR12","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/keab225","author":"A Oganesyan","year":"2021","unstructured":"Oganesyan A, Jachiet V, Chasset F, et\u00a0al. VEXAS syndrome: still expanding the clinical phenotype. Rheumatology (Oxford). 2021. https:\/\/doi.org\/10.1093\/rheumatology\/keab225.","journal-title":"Rheumatology (Oxford)"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-023-04034-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-023-04034-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-023-04034-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,22]],"date-time":"2023-07-22T00:02:50Z","timestamp":1689984170000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-023-04034-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,22]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["4034"],"URL":"https:\/\/doi.org\/10.1186\/s13256-023-04034-5","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,22]]},"assertion":[{"value":"2 August 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 June 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 July 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study has been approved by the local ethics committee, which waived the need for informed consent according to the French legislation.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"314"}}