03 January 2026
: Case report 
A Case of VEXAS Syndrome Initially Masked as Myelodysplastic Syndrome: Importance of Marrow Vacuolization and UBA1 Testing: A Case Report
Challenging differential diagnosis, Diagnostic / therapeutic accidents, Unusual setting of medical care, Rare disease, Clinical situation which can not be reproduced for ethical reasons
Ehsan Shahverdi ABCDEF 1, Petra Mundmann ABCDEF 1, Christian Pohlkamp ABCDEF 2, Safae Dirare ABCDEF 1, Islam Hussein Mohamed ABCDEF 1, Hüdanur Semerci ABCDEF 1, Corinna Petz ABCDEF 1*DOI: 10.12659/AJCR.950181
Am J Case Rep 2026; 27:e950181
Figure 1 (A) Numerous erythroid and myeloid precursor cells in the bone marrow biopsy show vacuolization, predominantly involving proerythroblasts, promyelocytes, and myeloblasts (×50). (B) A myeloblast with typical vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome morphology with prominent vacuolization of the cytoplasm and nuclei (×100).