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Updated: Jan 17, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[VEXAS syndrome]
M Krusche1, N Ruffer2, I Kötter2,3
1Sektion für Rheumatologie und Entzündliche Systemerkrankungen in der III. Medizin, Universitätsklinikum Hamburg-Eppendorf (UKE), Hamburg, Deutschland. m.krusche@uke.de.
None:
The VEXAS (vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) syndrome is an acquired autoinflammatory disease, which is based on somatic mutations in the UBA1 gene and described as an hematoinflammatory disease. It is clinically expressed as an inflammatory systemic disease with general vegetative symptoms and organ manifestations of the skin, lungs and the hematopoietic system. The symptoms are not uncommonly refractory to conventional anti-inflammatory therapeutic agents. The disease is associated with a clearly increased mortality and morbidity.
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