VEXAS syndrome

The VEXAS syndrome is an adult-onset autoinflammatory disease affecting males, caused by a mutation in the UBA1 gene.[1][2][3][4][5] The name derives from Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic.[6]

The syndrome was first reported in a paper in The New England Journal of Medicine in October 2020, by Beck et al, who write: "Using a genotype-driven approach, we identified a disorder that connects seemingly unrelated adult-onset inflammatory syndromes."[7] An editorial in the same issue describes the work as a "fascinating discovery" which "is of immediate importance to rheumatologists and has far-reaching consequences of general clinical interest. It builds on previous findings suggesting that postzygotic somatic mutation may be a more frequent cause of human disease than previously recognized".[8]

The podcast The Naked Scientists featured an interview with Dan Kastner about VEXAS, in an episode titled "Mink, Ivory, & a Disease Discovered Backwards" broadcast on 13 November 2020.[9]

References
  1. Onuora, Sarah (1 December 2020). "Somatic mutations cause VEXAS syndrome". Nature Reviews Rheumatology. doi:10.1038/s41584-020-00559-x.
  2. Mathews, Stephanie (4 November 2020). "NIH Researchers Discover a New Inflammatory Disease Called VEXAS". National Institute of Arthritis and Musculoskeletal and Skin Diseases. 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. Retrieved 27 November 2020.
  5. Nelson, Bryn (14 December 2020). "VEXAS: A Newly Identified & Vexing Myeloid-Driven Inflammation". The Rheumatologist. 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. Retrieved 17 November 2020.
  7. Beck, David B.; Ferrada, Marcela A.; Sikora, Keith A.; Ombrello, Amanda K.; Collins, Jason C.; Pei, Wuhong; Balanda, Nicholas; Ross, Daron L.; Ospina Cardona, Daniela; Wu, Zhijie; Patel, Bhavisha; Manthiram, Kalpana; Groarke, Emma M.; Gutierrez-Rodrigues, Fernanda; Hoffmann, Patrycja; Rosenzweig, Sofia; Nakabo, Shuichiro; Dillon, Laura W.; Hourigan, Christopher S.; Tsai, Wanxia L.; Gupta, Sarthak; Carmona-Rivera, Carmelo; Asmar, Anthony J.; Xu, Lisha; Oda, Hirotsugu; Goodspeed, Wendy; Barron, Karyl S.; Nehrebecky, Michele; Jones, Anne; Laird, Ryan S.; Deuitch, Natalie; Rowczenio, Dorota; Rominger, Emily; Wells, Kristina V.; Lee, Chyi-Chia R.; Wang, Weixin; Trick, Megan; Mullikin, James; Wigerblad, Gustaf; Brooks, Stephen; Dell’Orso, Stefania; Deng, Zuoming; Chae, Jae J.; Dulau-Florea, Alina; Malicdan, May C.V.; Novacic, Danica; Colbert, Robert A.; Kaplan, Mariana J.; Gadina, Massimo; Savic, Sinisa; Lachmann, Helen J.; Abu-Asab, Mones; Solomon, Benjamin D.; Retterer, Kyle; Gahl, William A.; Burgess, Shawn M.; Aksentijevich, Ivona; Young, Neal S.; Calvo, Katherine R.; Werner, Achim; Kastner, Daniel L.; Grayson, Peter C. (27 October 2020). "Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease". New England Journal of Medicine: NEJMoa2026834. doi:10.1056/NEJMoa2026834.
  8. Levy-Lahad, Ephrat; King, Mary-Claire (27 October 2020). "Hiding in Plain Sight — Somatic Mutation in Human Disease". New England Journal of Medicine: NEJMe2030754. doi:10.1056/NEJMe2030754.
  9. "VEXAS: how a deadly disease was discovered". www.thenakedscientists.com. 13 November 2020. Retrieved 13 December 2020.
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