NIAMS Update Issue 6, 2024

Scientists at NIAMS and other institutions have shed light on patterns of skin characteristics seen in patients with VEXAS ( vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, an often-deadly inflammatory condition caused by mutations in the UBA1 gene of blood cells. In addition, distinct skin symptoms were linked to specific gene variants in people with the disease. The findings were recently published in JAMA Dermatology. VEXAS syndrome was first reported by a team of NIH researchers in 2020. People with the disorder often have a wide range of inflammatory symptoms that affect multiple organs. The mutations in VEXAS syndrome happen

When I joined NIAMS three and a half years ago, I talked about my commitment to collaboration and learning from the NIAMS community in my first director’s letter. Since then, we have done a lot of both collaborating and learning! I highly value the input from the NIAMS community on the development of our resources and in determining the direction of our research so that we are addressing the needs of the various audiences we serve, from researchers and medical providers to patients and caregivers. NIAMS regularly solicits feedback to understand audience needs. Over the past two years, the NIAMS