VEXAS syndrome

From Wikipedia, the free encyclopedia

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.

External links[]

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