80-year-old patient with recurrent atrial polychondritis of several years of evolution, anterior uveítis and pulmonary inflammation. Treatment-refractory to methotrexate, corticosteroids y Adalimumab. He develops cytopenias (anemia and thrombopenia) and peripheral blood dysplasia. Bone marrow aspirate shows cytoplasmic vacuoles in myeloid and erytroid precursor cell and global dysplasia. In a genetic study, the variant p.Met41THr of the UBA1 gene was detected, being diagnosed with VEXAS Syndrome. 

The VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly-described adult-onset inflammatory syndrome characterized by vacuoles in myeloid and erythroid precursor cells and somatic mutations affecting methionine-41 (p.Met41) in UBA1. N Engl J Med. 2020 Dec 31; 383 (27): 2628-2638