Scientists used clues in the human genome to discover new inflammatory syndrome
On Oct. 27, 2020, researchers from the National Institutes of Health (NIH) announced they had discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
VEXAS causes symptoms that included blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles (unusual cavity-like structures) in myeloid cells. The scientists reported their findings in the New England Journal of Medicine.
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Source: National Institutes of Health
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