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Hannah Smith

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Case report Open access Jun 2026

Diagnostic and Therapeutic Challenge: VEXAS Syndrome with Multisystem Inflammation and Myelodysplasia: A Case Report

VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is an adult-onset autoinflammatory disorder caused by somatic UBA1 mutations linking systemic inflammation with haematologic dysfunction. We report a 59-year-old man presenting with fatigue, fevers, and severe macrocytic anaemia (haemoglobin 8.1...

Bsher Almaalouli, Hannah Smith, Gabriel R. Kirsch et al. · 0 citations

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