Innovations in genomics for undiagnosed diseases: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome

Stubbins et al illustrate the power of genomics to affect clinical diagnostics and practice with the newly discovered vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, which has provided a unifying genetic diagnosis for a group of patients with a previously undiagnosed autoinflammatory syndrome. This syndrome is relevant to many physicians as it can present with a wide variety of symptoms involving many organ systems and it has an adult age of onset, which shows that genetically driven disorders can affect almost any patient. At present, many patients with VEXAS are placed within existing diagnostic categories and will benefit from accurate diagnosis based on the genomic driver of their disease.