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

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https://eprints.whiterose.ac.uk/167344/1/nejmoa2026834.pdf

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Somatic mutations in autoinflammatory and autoimmune disease.

Autor: Torreggiani S; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. sofia.torreggiani@nih.gov.; Epidemiology and Human Genetics, Graduate Program in Life Sciences, University of Maryland School of Medicine, Baltimore, MD, USA. sofia.torreggiani@nih.gov., Castellan FS; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA., Aksentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Beck DB; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA. David.Beck@nyulangone.org.

Publikováno v: Nature reviews. Rheumatology [Nat Rev Rheumatol] 2024 Nov; Vol. 20 (11), pp. 683-698. Date of Electronic Publication: 2024 Oct 11.

Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes.

Autor: Sirenko M; Louis V. Gerstner, Jr. Graduate School of Biomedical Sciences, Memorial Sloan Kettering Cancer Center, New York, NY.; Computational Oncology Service, Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY.; Department of Pathology, New York University Grossman School of Medicine, New York, NY., Bernard E; Computational Oncology Service, Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY., Creignou M; Phase 1 Unit, Center for Clinical Cancer Studies, Karolinska University Hospital, Stockholm, Sweden., Domenico D; Computational Oncology Service, Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY., Farina A; Integrated Genomics Operation, Memorial Sloan Kettering Cancer Center, New York, NY., Arango Ossa JE; Computational Oncology Service, Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY., Kosmider O; Institut Cochin, Université de Paris Cité, Paris, France.; 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Publikováno v: Blood [Blood] 2024 Sep 12; Vol. 144 (11), pp. 1221-1229.

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).