Article

VEXAS syndrome is characterized by blood and tissues inflammasome pathway activation and monocyte dysregulation

2022-10-17

Abstract excerpt

<h4>SUMMARY</h4> Acquired mutations in the UBA1 gene, occurring in myeloid cells and resulting in expression of a catalytically impaired isoform of the enzyme E1, were recently identified in patients with severe adult-onset auto-inflammatory syndrome called VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic). The precise physiological and clinical impact of these mutations remains poorly defined. Here...

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Literature Corpus work: df158d0f-778e-53b6-b561-9aa64182d301
DOI: 10.1101/2022.10.12.22281005

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