Acquired mutations of the gene UBA1 occurring in myeloid cells that result in the expression of impaired isoforms of the enzyme E1 have been described in patients with a severe adult onset auto-inflammatory syndrome called VEXAS. Here the authors profile patients with UBA1 mutations presenting with or without VEXAS disease and show VEXAS disease is characterized by inflammasome activation and monocyte dysregulation.
All Keywords
【저자키워드】 Inflammation, Immunological disorders, Inflammasome, Myelopoiesis,
【저자키워드】 Inflammation, Immunological disorders, Inflammasome, Myelopoiesis,