ArticleCureus2025
Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, and Somatic (VEXAS) Syndrome Presenting With Bicytopenia and Vasculitis.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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2 authors.
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Abstract
Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic (VEXAS) syndrome is a recently described autoinflammatory condition caused by somatic mutations in the UBA1 gene, typically affecting adult males. Typical clinical features include systemic inflammation, hematologic abnormalities, and various cutaneous manifestations. Due to its recent recognition, the disease poses significant diagnostic and therapeutic challenges. We report the case of a 56-year-old man who presented with recurrent fever, skin lesions consistent with leukocytoclastic vasculitis, macrocytic anemia, and thrombocytopenia. Bone marrow examination revealed dysplastic features and foamy macrophages. Given the suspicion of an autoinflammatory disease, molecular testing using next-generation sequencing was requested, and a somatic mutation in UBA1
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