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.