{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,21]],"date-time":"2025-08-21T17:48:14Z","timestamp":1755798494909,"version":"3.44.0"},"reference-count":6,"publisher":"SMC Media","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Background:\u00a0VEXAS syndrome, also known as vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome, is a newly identified genetic condition characterised by a combination of autoinflammatory symptoms and myeloid dysplasia. The initial description was documented in 2020 and since then, there has been an increasing number of cases and series reported globally. Case description:\u00a0We present a case of VEXAS syndrome in an 88-year-old male patient. The patient has a p.Met41Val mutation in the UBA1 gene with notable skin, joint and lung involvement. As far as we know, this is the first documentation of VEXAS syndrome in Morocco and Africa. This condition may exhibit characteristics of recurrent fever, neutrophilic dermatitis, arthritis and chondritis, along with cytopaenias and myelodysplastic syndrome. The p.Met41Val mutation is known to be associated with severe clinical presentation and poor prognosis, with less chondritis involvement and more undifferentiated inflammatory syndrome, as seen in the described case. Conclusions:\u00a0VEXAS syndrome represents a prototype for a new classification of diseases, although it is still insufficiently identified in many underdeveloped countries, especially in Africa. It should be considered in elderly males with unexplained fever associated with systemic manifestations and worsening haematologic abnormalities.<\/jats:p>","DOI":"10.12890\/2025_005419","type":"journal-article","created":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T09:31:52Z","timestamp":1749807112000},"source":"Crossref","is-referenced-by-count":0,"title":["VEXAS syndrome in a Moroccan patient: the story of a two-year diagnostic lag"],"prefix":"10.12890","volume":"12","author":[{"given":"Abire","family":"Allaoui","sequence":"first","affiliation":[{"name":"Internal Medicine Department, Mohammed VI University of Sciences and Health (UM6SS), Casablanca, Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lilia","family":"Zizi","sequence":"first","affiliation":[{"name":"Internal Medicine Department, Mohammed VI University of Sciences and Health (UM6SS), Casablanca, Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Halima","family":"Hadri","sequence":"first","affiliation":[{"name":"Hematology Department, Mohammed VI University of Sciences and health (UM6SS), Casablanca, Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doha","family":"Kabil","sequence":"first","affiliation":[{"name":"Internal Medicine Department, Mohammed VI University of Sciences and Health (UM6SS), Casablanca, Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed Aziz","family":"Bousfiha","sequence":"first","affiliation":[{"name":"Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca, Hassan II University of Casablanca, Casablanca, Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdelhamid","family":"Naitlho","sequence":"first","affiliation":[{"name":"Internal Medicine Department, Mohammed VI University of Sciences and Health (UM6SS), Casablanca, Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"Adnaoui","sequence":"first","affiliation":[{"name":"Internal Medicine Department, Mohammed VI University of Sciences and Health (UM6SS), Casablanca, Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10397","published-online":{"date-parts":[[2025,6,13]]},"reference":[{"key":"10.12890\/2025_005419_ref1","doi-asserted-by":"crossref","unstructured":"Hochman MJ, DeZern AE. Myelodysplastic syndrome and autoimmune disorders: two sides of the same coin? Lancet Haematol 2022;9:e523\u2013e534. doi: 10.1016\/S2352-3026(22)00138-7","DOI":"10.1016\/S2352-3026(22)00138-7"},{"key":"10.12890\/2025_005419_ref2","doi-asserted-by":"crossref","unstructured":"Lynch OF, Calvi LM. Immune dysfunction, cytokine disruption, and stromal changes in myelodysplastic syndrome: a review. Cells 2022;11:580. doi: 10.3390\/cells11030580","DOI":"10.3390\/cells11030580"},{"key":"10.12890\/2025_005419_ref3","doi-asserted-by":"crossref","unstructured":"Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med 2020;383:2628\u20132638. doi: 10.1056\/NEJMoa2026834","DOI":"10.1056\/NEJMoa2026834"},{"key":"10.12890\/2025_005419_ref4","doi-asserted-by":"crossref","unstructured":"Georgin-Lavialle S, Terrier B, Guedon A, Estibaliz L, Heiblig M, Comont T, et al. Observatoire fran\u00e7ais de 116 patients avec un syndrome VEXAS: corr\u00e9lation ph\u00e9notype\u2013g\u00e9notype et prise en charge. Rev M\u00e9decine Interne 2021;42:A297\u2013A298. doi: 10.1016\/j.revmed.2021.10.249","DOI":"10.1016\/j.revmed.2021.10.249"},{"key":"10.12890\/2025_005419_ref5","doi-asserted-by":"crossref","unstructured":"Khitri MY, Hadjadj J, Mekinian A, Jachiet V. VEXAS syndrome: an update. Joint Bone Spine 2024;91:105700. doi: 10.1016\/j.jbspin.2024.105700","DOI":"10.1016\/j.jbspin.2024.105700"},{"key":"10.12890\/2025_005419_ref6","doi-asserted-by":"crossref","unstructured":"Kouranloo K, Ashley A, Zhao SS, Dey M. Pulmonary manifestations in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome: a systematic review. Rheumatol Int 2023;43:1023\u20131032. doi: 10.1007\/s00296-022-05266-2","DOI":"10.1007\/s00296-022-05266-2"}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/5419\/4707","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/5419\/4708","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/5419\/4708","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,19]],"date-time":"2025-08-19T09:25:45Z","timestamp":1755595545000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/view\/5419"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,13]]},"references-count":6,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.12890\/2025_005419","relation":{"has-manifestation":[{"id-type":"other","id":"1-127-5419-g4707","asserted-by":"subject"},{"id-type":"other","id":"1-127-5419-g4708","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-127","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"type":"electronic","value":"2284-2594"}],"subject":[],"published":{"date-parts":[[2025,6,13]]}}}