The researchers discovered that 11 of the participants had likely somatic variants at known pathogenic UBA1 positions, and all 11 had clinical symptoms consistent with VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome. Five people (45 percent) did not meet the criteria for previous rheumatologic and/or hematologic diagnoses associated with VEXAS syndrome, but all 11 had anemia, which was macrocytic in 10 people and had concomitant thrombocytopenia in 10 people. One male patient had a pathogenic variant identified prior to the onset of VEXAS-related signs or symptoms, and two female patients had disease caused by heterozygous variants. A previously unreported UBA1 variant was found in one symptomatic patient, with in vitro data supporting a catalytic defect and pathogenicity. Disease-causing UBA1 variants were found in one of 13,591 unrelated individuals, as well as in one of 4,269 men and one in 26,238 women over the age of 50.