Results 21 to 30 of about 2,299 (157)

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome [PDF]

Blood, 2021
Poulter and colleagues describe a series from the United Kingdom of 10 male patients with VEXAS syndrome, including 2 with novel genetic changes affecting methionine 41 of E1.
James A. Poulter, Jason C. Collins, Catherine Cargo, Ruth M. De Tute, Paul Evans, Daniela Ospina Cardona, David T. Bowen, Joanna R. Cunnington, Elaine Baguley, Mark Quinn, Michael Green, Dennis McGonagle, David B. Beck, Achim Werner, Sinisa Savic   +14 more
openaire   +3 more sources

Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS [PDF]

Journal of Allergy and Clinical Immunology, 2022
A novel autoinflammatory syndrome was recently described in male patients who harbored somatic mutations in the X-chromosomal UBA1 gene. These patients were characterized by adult-onset, treatment-refractory inflammation with fever, cytopenia, dysplastic bone marrow, vacuoles in myeloid and erythroid progenitor cells, cutaneous and pulmonary ...
Caspar I. van der Made, Judith Potjewijd, Annemiek Hoogstins, Huub P.J. Willems, Arjan J. Kwakernaak, Ruud G.L. de Sevaux, Paul L.A. van Daele, Annet Simons, Marloes Heijstek, David B. Beck, Mihai G. Netea, Pieter van Paassen, A. Elizabeth Hak, Lars T. van der Veken, Marielle E. van Gijn, Alexander Hoischen, Frank L. van de Veerdonk, Helen L. Leavis, Abraham Rutgers   +18 more
openaire   +9 more sources

UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review [PDF]

Modern Rheumatology Case Reports, 2021
ABSTRACT Vacuoles, E1 enzyme, X linked, autoinflammatory, somatic (VEXAS) syndrome is a recently described X-linked autoinflammatory condition associated with somatic mutation of the ubiquitin-like modifier activating enzyme 1 (UBA1) gene.
Farah Shaukat, Melissa Hart, Timothy Burns, Pankaj Bansal   +3 more
openaire   +2 more sources

Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS [PDF]

Arthritis & Rheumatology, 2021
ObjectiveSomatic mutations in UBA1 cause a newly defined syndrome known as VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome). More than 50% of patients currently identified as having VEXAS met diagnostic criteria for relapsing polychondritis (RP), but clinical features that characterize VEXAS within a cohort of patients with RP ...
Marcela A. Ferrada, Keith A. Sikora, Yiming Luo, Kristina V. Wells, Bhavisha Patel, Emma M. Groarke, Daniela Ospina Cardona, Emily Rominger, Patrycja Hoffmann, Mimi T. Le, Zuoming Deng, Kaitlin A. Quinn, Emily Rose, Wanxia L. Tsai, Gustaf Wigerblad, Wendy Goodspeed, Anne Jones, Lorena Wilson, Oskar Schnappauf, Ryan S. Laird, Jeff Kim, Clint Allen, Arlene Sirajuddin, Marcus Chen, Massimo Gadina, Katherine R. Calvo, Mariana J. Kaplan, Robert A. Colbert, Ivona Aksentijevich, Neal S. Young, Sinisa Savic, Daniel L. Kastner, Amanda K. Ombrello, David B. Beck, Peter C. Grayson   +34 more
openaire   +4 more sources

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease [PDF]

New England Journal of Medicine, 2020
Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may define new disorders.We analyzed peripheral-blood exome sequence data independent of clinical phenotype and inheritance pattern to identify deleterious mutations in ubiquitin ...
David B. Beck, Marcela A. Ferrada, Keith A. Sikora, Amanda K. Ombrello, Jason C. Collins, Wuhong Pei, Nicholas Balanda, Daron L. Ross, Daniela Ospina Cardona, Zhijie Wu, Bhavisha Patel, Kalpana Manthiram, Emma M. Groarke, Fernanda Gutierrez-Rodrigues, Patrycja Hoffmann, Sofia Rosenzweig, Shuichiro Nakabo, Laura W. Dillon, Christopher S. Hourigan, Wanxia L. Tsai, Sarthak Gupta, Carmelo Carmona-Rivera, Anthony J. Asmar, Lisha Xu, Hirotsugu Oda, Wendy Goodspeed, Karyl S. Barron, Michele Nehrebecky, Anne Jones, Ryan S. Laird, Natalie Deuitch, Dorota Rowczenio, Emily Rominger, Kristina V. Wells, Chyi-Chia R. Lee, Weixin Wang, Megan Trick, James Mullikin, Gustaf Wigerblad, Stephen Brooks, Stefania Dell’Orso, Zuoming Deng, Jae J. Chae, Alina Dulau-Florea, May C.V. Malicdan, Danica Novacic, Robert A. Colbert, Mariana J. Kaplan, Massimo Gadina, Sinisa Savic, Helen J. Lachmann, Mones Abu-Asab, Benjamin D. Solomon, Kyle Retterer, William A. Gahl, Shawn M. Burgess, Ivona Aksentijevich, Neal S. Young, Katherine R. Calvo, Achim Werner, Daniel L. Kastner, Peter C. Grayson   +61 more
openaire   +5 more sources

Characterization of ubiquitin-activating enzyme Uba1 in the nucleus by its mammalian temperature-sensitive mutant. [PDF]

PLoS ONE, 2014
Temperature-sensitive (ts) CHO-K1 mutant tsTM3 exhibits chromosomal instability and cell-cycle arrest in the S to G2 phases with decreased DNA synthesis at the nonpermissive temperature, 39°C.
Kimihiko Sugaya, Kimihiko Sugaya, Yoshie Ishihara, Sonoe Inoue, Hideo Tsuji   +4 more
doaj   +1 more source

VEXAS syndrome with cutaneous nodules

Dermatology Reports, 2021
Recently, a rare severe autoinflammatory Vacuoles, E1 enzyme, X-linked, autoinflammatory, Somatic (VEXAS) syndrome caused by somatic variants in the UBA1 gene was discovered.
Yahya Argobi
doaj   +1 more source

VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder

Experimental Hematology & Oncology, 2021
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly-described adult-onset inflammatory syndrome characterized by vacuoles in myeloid and erythroid precursor cells and somatic mutations affecting methionine-41 (p.Met41) in
Huijun Huang, Wenjun Zhang, Wenyu Cai, Jinqin Liu, Huijun Wang, Tiejun Qin, Zefeng Xu, Bing Li, Shiqiang Qu, Lijuan Pan, Gang Huang, Robert Peter Gale, Zhijian Xiao   +12 more
doaj   +1 more source

UBA1 Mutations Identify a Rare but Distinct Subtype of Myelodysplastic Syndromes

Blood, 2023
Background Mutations in UBA1 are associated with VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome, an adult-onset inflammatory disorder (Beck DB et al. NEJM 2020). Approximately 40% of VEXAS patients are also diagnosed with myelodysplastic syndromes (MDS).
Sirenko, M, Bernard, E, Creignou, M, Domenico, D, Farina, A, Ossa, JEA, Kosmider, O, Hasserjian, R, Jädersten, M, Germing, U, Sanz, G, van de Loosdrecht, AA, Gurnari, C, Follo, MY, Thol, F, Zamora, L, Pellagatti, A, Elias, HK, Haase, D, Ganster, C, Ades, L, Tobiasson, M, Palomo, L, Della Porta, MG, Huberman, K, Fenaux, P, Belickova, M, Savona, MR, Klimek, VM, Santos, FPS, Boultwood, J, Kotsianidis, I, Santini, V, Francesc Solé, Platzbecker, U, Heuser, M, Valent, P, Finelli, C, Voso, MT, Shih, LY, Ogawa, S, Fontenay, M, Jansen, JH, Cervera, J, Ebert, BL, Bejar, R, Greenberg, PL, Gattermann, N, Malcovati, L, Cazzola, M, Beck, DB, Lindberg, EH, Papaemmanuil, E   +52 more
openaire   +3 more sources

VEXAS syndrome: a new discovered systemic rheumatic disorder

Rheumatology, 2023
VEXAS syndrome is an adult-onset autoinflammatory disease associated with hematologic symptoms. The disease affects primarily males, and leads to death of a significant proportion of the patients.
Eugeniusz Józef Kucharz
doaj   +1 more source