26 September 2024
Dr Adam Carroll - Advanced Trainee, Rheumatology
Dr Patrick Baquir - Advanced Trainee, Rheumatology
Sweet syndrome (acute febrile neutrophilic dermatosis): Pathogenesis, clinical manifestations, and diagnosis
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, Balanda N, Ross DL, Ospina Cardona D, Wu Z, Patel B, Manthiram K, Groarke EM, Gutierrez-Rodrigues F, Hoffmann P, Rosenzweig S, Nakabo S, Dillon LW, Hourigan CS, Tsai WL, Gupta S, Carmona-Rivera C, Asmar AJ, Xu L, Oda H, Goodspeed W, Barron KS, Nehrebecky M, Jones A, Laird RS, Deuitch N, Rowczenio D, Rominger E, Wells KV, Lee CR, Wang W, Trick M, Mullikin J, Wigerblad G, Brooks S, Dell'Orso S, Deng Z, Chae JJ, Dulau-Florea A, Malicdan MCV, Novacic D, Colbert RA, Kaplan MJ, Gadina M, Savic S, Lachmann HJ, Abu-Asab M, Solomon BD, Retterer K, Gahl WA, Burgess SM, Aksentijevich I, Young NS, Calvo KR, Werner A, Kastner DL, Grayson PC. Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27. PMID: 33108101; PMCID: PMC7847551.
Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR. Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. JAMA. 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. PMID: 36692560; PMCID: PMC10408261.
Kouranloo K, Dey M, Almutawa J, Myall N, Nune A. Clinical characteristics, disease trajectories and management of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a systematic review. Rheumatol Int. 2024 Jul;44(7):1219-1232. doi: 10.1007/s00296-023-05513-0. Epub 2023 Dec 21. PMID: 38129348.
Sockel K, Götze K, Ganster C, Bill M, Georgi JA, Balaian E, Aringer M, Trautmann-Grill K, Uhlig M, Bornhäuser M, Haase D, Thiede C. VEXAS syndrome: complete molecular remission after hypomethylating therapy. Ann Hematol. 2024 Mar;103(3):993-997. doi: 10.1007/s00277-023-05611-w. Epub 2024 Jan 12. PMID: 38214707; PMCID: PMC10866742.
Back