A genotype-to-phenotype approach to discovering a new autoinflammatory disease (IMAGE)

NIH/National Human Genome Research Institute

A genotype-to-phenotype approach to discovering a new autoinflammatory disease

Caption

Researchers at the National Human Genome Research Institute have 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.

Credit

Harry Wedel, NHGRI

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