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. 17 (1): 1. doi:10.1038/s41584-020-00559-x. ISSN 1759-4790. PMID 33262468.
  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.
  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. 383 (27): 2628–2638. doi:10.1056/NEJMoa2026834. PMC 7847551. PMID 33108101.
  8. ↑ Levy-Lahad, Ephrat; King, Mary-Claire (27 October 2020). "Hiding in Plain Sight — Somatic Mutation in Human Disease". New England Journal of Medicine. 383 (27): 2680–2682. doi:10.1056/NEJMe2030754. PMID 33108100.
  9. ↑ "VEXAS: how a deadly disease was discovered". www.thenakedscientists.com. 13 November 2020. Archived from the original on 16 March 2021. Retrieved 13 December 2020.
    This article is issued from Offline. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.