X-linked. A: Patients with VEXAS present with a wide array of Autoinflammatory conditions S: The mutations which cause VEXAS are Somatic: they are acquired...

physician-scientist, clinical geneticist, and researcher who co-discovered VEXAS Syndrome. He holds dual appointments as an assistant professor in the Department...

anemia and thrombocytopenia, should be tested for a new disease called VEXAS syndrome. There are several clinical criteria used to diagnose this disease....

disease, autoimmune thyroiditis, inflammatory arthritis, lupus, and VEXAS syndrome. Among the various disorders associated with the ubiquitin-proteasome...

diseases (i.e., PID) such as the chronic mucocutaneous candidiasis and the VEXAS syndrome. These phenocopy cases are due to somatic mutations that occur after...

trials. An autoinflammatory condition identified in 2020 and named VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is due to...

2020 he was one of the authors of the paper which first described the VEXAS syndrome. As of 2021[update] he is working on Behçet's disease. As of 2021[update]...

talus, congenital; 192950; HOXD10 Vesicoureteral reflux 2; 610878; ROBO2 VEXAS; 301054; UBA1 Vitamin D-dependent rickets, type I; 264700; CYP27B1 Vitamin...

marrow failure diseases, and is part of the VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory Syndrome) discovery team at NIH. Young has published...