VEXAS syndrome

VEXAS syndrome is an adult-onset autoinflammatory disease primarily affecting males, caused by a somatic mutation of the UBA1 gene in hematopoietic progenitor cells.[1][2][3][4][5] The name VEXAS is an acronym deriving from the core features of disease:[6]

V: Vacuoles are often identified in the bone marrow stem cells of patients presenting with VEXAS.
E: The E1 ubiquitin conjugating enzyme encoded by the UBA1 gene is mutated in patients.
X: The mutated UBA1 gene is recessive and located on the X-chromosome and thus the disease is almost exclusively found in individuals with a single X chromosome and thus said to be 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 throughout life, not inherited, and are not passed on to offspring.
  1. ^ Onuora, Sarah (1 December 2020). "Somatic mutations cause VEXAS syndrome". Nature Reviews Rheumatology. 17 (1): 1. doi:10.1038/s41584-020-00559-x. ISSN 1759-4790. PMID 33262468. S2CID 227236646.
  2. ^ Mathews, Stephanie (4 November 2020). "NIH Researchers Discover a New Inflammatory Disease Called VEXAS". National Institute of Arthritis and Musculoskeletal and Skin Diseases. Archived from the original on 10 November 2020. Retrieved 17 November 2020.
  3. ^ Edwards, Erika (27 October 2020). "'The VEXAS syndrome': Scientists discover a rare and deadly inflammatory disorder in men". NBC News. Retrieved 17 November 2020.
  4. ^ "New inflammatory disease discovered". NIH Research Matters. National Institutes of Health. 3 November 2020. Archived from the original on 1 December 2020. Retrieved 27 November 2020.
  5. ^ Nelson, Bryn (14 December 2020). "VEXAS: A Newly Identified & Vexing Myeloid-Driven Inflammation". The Rheumatologist. Archived from the original on 19 December 2020. Retrieved 16 December 2020.
  6. ^ Ganguly, Prabarna (27 October 2020). "Scientists use clues in the human genome to discover new inflammatory syndrome". Genome.gov. National Human Genome Research Institute. Archived from the original on 5 November 2020. Retrieved 17 November 2020.