Article
[Macrocytic anemia and polychondritis: VEXAS syndrome].
Zeitschrift fur Rheumatologie - 1 Apr 2024
Zeisbrich Markus, Schindler Viktoria, Krausz Máté, Proietti Michele, Mrovecova Pavla, Voll Reinhard E, Glaser Cornelia, Röther Fabian, Warnatz Klaus, Venhoff Nils
Abstract excerpt
An adult-onset autoinflammatory syndrome caused by somatic mutations in the UBA1 gene on the X chromosome was first reported in 2020. This VEXAS syndrome (acronym for vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) is characterized by an overlap of rheumatic inflammatory diseases with separate hematologic abnormalities. A substantial number of affected patients suffer from treatment refractory relapsing...
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