Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis

Autor: Ferrada MA, Savic S, Collins JC, Alessi H, Gutierrez-Rodrigues F, Kumar DBU, Wilson L, Goodspeed W, Topilow JS, Paik JJ, Poulter JA, Kermani TA, Koster MJ, Warrington KJ, Cargo C, Tattersall RS, Duncan CJA, Cantor A, Hoffmann P, Payne EM, Bonnekoh H, Krause K, Cowen EW, Calvo KR, Patel BA, Ombrello AK, Kastner DL, Young NS, Werner A, Grayson PC, Beck DB

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::07a317bdb05d4f8f1b32c954039fa049

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

Autor: 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, C-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

BACKGROUND Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may define new disorders. METHODS We analyzed peripheral-blood ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::ed156b9e0d0cc322c720be3d2bca96f5
https://eprints.whiterose.ac.uk/167344/1/nejmoa2026834.pdf

¹⁸ F-FDG-PET/MR imaging to monitor disease activity in large vessel vasculitis.

Autor: Pugh D; BHF/University Centre for Cardiovascular Science, University of Edinburgh, Edinburgh, UK., Patel D; Department of Radiology, Royal Infirmary of Edinburgh, Edinburgh, UK., Macnaught G; Edinburgh Imaging Facility, University of Edinburgh, Edinburgh, UK., Czopek A; BHF/University Centre for Cardiovascular Science, University of Edinburgh, Edinburgh, UK., Bruce L; BHF/University Centre for Cardiovascular Science, University of Edinburgh, Edinburgh, UK., Donachie J; BHF/University Centre for Cardiovascular Science, University of Edinburgh, Edinburgh, UK., Gallacher PJ; BHF/University Centre for Cardiovascular Science, University of Edinburgh, Edinburgh, UK., Tan S; National Institute of Arthritis & Musculoskeletal & Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Ahlman M; Department of Radiology & Imaging, Medical College of Georgia, Georgia, USA., Grayson PC; National Institute of Arthritis & Musculoskeletal & Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Basu N; Institute of Infection, Immunity & Inflammation, University of Glasgow, Glasgow, UK., Dhaun N; BHF/University Centre for Cardiovascular Science, University of Edinburgh, Edinburgh, UK. bean.dhaun@ed.ac.uk.

Publikováno v: Nature communications [Nat Commun] 2024 Aug 25; Vol. 15 (1), pp. 7314. Date of Electronic Publication: 2024 Aug 25.

Opportunistic Infections, Mortality Risk, and Prevention Strategies in Patients With Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic (VEXAS) Syndrome.

Autor: Czech M; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA., Cuellar-Rodriguez J; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA., Patel BA; National Heart, Blood, and Lung Institute, National Institutes of Health, Bethesda, Maryland, USA., Groarke EM; National Heart, Blood, and Lung Institute, National Institutes of Health, Bethesda, Maryland, USA., Cowen EW; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA., Turturice B; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA., Beck DB; Department of Medicine and Department of Biochemistry and Molecular Pharmacology, New York University, New York, New York, USA.; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Wilson L; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Goodspeed W; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA., Darden I; National Heart, Blood, and Lung Institute, National Institutes of Health, Bethesda, Maryland, USA., Young NS; National Heart, Blood, and Lung Institute, National Institutes of Health, Bethesda, Maryland, USA., Hickstein D; National Heart, Blood, and Lung Institute, National Institutes of Health, Bethesda, Maryland, USA., Ombrello A; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Hoffman P; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Arikan EA; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA., Sinaii N; Clinical Center, National Institutes of Health, Bethesda, Maryland, USA., Hathaway L; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA., Castelo-Soccio L; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA., Fike A; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA., Kastner DB; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Grayson PC; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA., Ferrada MA; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.; Division of Rheumatology and Clinical Immunology, University of Maryland School of Medicine, Baltimore, Maryland, USA.

Publikováno v: Open forum infectious diseases [Open Forum Infect Dis] 2024 Jul 23; Vol. 11 (7), pp. ofae405. Date of Electronic Publication: 2024 Jul 23 (Print Publication: 2024).

Relapsing polychondritis: clinical updates and new differential diagnoses.

Autor: Mertz P; Department of Rheumatology, National Reference Center for Rare Autoimmune Diseases (RESO), INSERM UMR-S 1109, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Costedoat-Chalumeau N; National Referral Centre for Rare Autoimmune and Systemic Diseases, Department of Internal Medicine, Hôpital Cochin, AP-HP Centre, Université Paris Cité, Paris, France., Ferrada MA; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Moulis G; Department of Internal Medicine, Toulouse University Hospital, Toulouse, France., Mekinian A; Service de Médecine Interne, DHUi2B, Hôpital Saint-Antoine, Paris, France., Grayson PC; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Arnaud L; Department of Rheumatology, National Reference Center for Rare Autoimmune Diseases (RESO), INSERM UMR-S 1109, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Laurent.arnaud@chru-strasbourg.fr.

Publikováno v: Nature reviews. Rheumatology [Nat Rev Rheumatol] 2024 Jun; Vol. 20 (6), pp. 347-360. Date of Electronic Publication: 2024 May 02.