Introduction
During the latter half of 2020, researchers at the National Institutes of Health (NIH) reported a novel inflammatory disorder, aptly named as VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome). The disease, which unites evidently unassociated inflammatory conditions, was discovered using an unorthodox genotype-based approach – it was recognized by clinical exome sequencing, with little attention to physical phenotypical manifestations or family history. (1)
Allergic and rheumatic diseases with genetic linkages have been traditionally identified using targeted sequencing approaches (2), and the discovery of VEXAS could potentially open up a new domain of research, encouraging genome sequencing to underpin the molecular basis of seemingly undiagnosable conditions, as was done in this case.