Results 31 to 40 of about 940 (155)
VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia
Case Reports in Hematology, 2023 VEXAS syndrome stands for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome. The syndrome is a combined hematological and rheumatological condition caused by a somatic mutation in the UBA1.Janne Austestad, Tor Magne Madland, Miriam Sandnes, Torjan Magne Haslerud, Andreas Benneche, Håkon Reikvam +5 moredoaj +1 more sourceCase Report: Coexistence of Multiple Myeloma and Auricular Chondritis in VEXAS Syndrome
Frontiers in Immunology, 2022 Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an inflammatory disorder caused by somatic UBA1 variants, which are sometimes associated with hematological disorders, including myelodysplastic syndrome (MDS).Haruki Matsumoto, Yuya Fujita, Masahiko Fukatsu, Takayuki Ikezoe, Kohei Yokose, Tomoyuki Asano, Naomi Tsuchida, Naomi Tsuchida, Naomi Tsuchida, Ayaka Maeda, Shuhei Yoshida, Honami Hashimoto, Jumpei Temmoku, Naoki Matsuoka, Makiko Yashiro-Furuya, Shuzo Sato, Mai Murakami, Hidenori Sato, Chiharu Sakuma, Kazumasa Kawashima, Norshalena Shakespear, Yuri Uchiyama, Yuri Uchiyama, Hiroshi Watanabe, Yohei Kirino, Naomichi Matsumoto, Kiyoshi Migita +26 moredoaj +1 more sourceCase Report: VEXAS Syndrome: From Mild Symptoms to Life-Threatening Macrophage Activation Syndrome
Frontiers in Immunology, 2021 Recently, a novel disorder coined VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome was identified in patients with adult-onset inflammatory syndromes, often accompanied by myelodysplastic syndrome1.Frederik Staels, Frederik Staels, Albrecht Betrains, Albrecht Betrains, F. J. Sherida H. Woei-A-Jin, F. J. Sherida H. Woei-A-Jin, Nancy Boeckx, Nancy Boeckx, Marielle Beckers, Marielle Beckers, An Bervoets, An Bervoets, Mathijs Willemsen, Mathijs Willemsen, Barbara Neerinckx, Barbara Neerinckx, Stephanie Humblet-Baron, Daniel Engelbert Blockmans, Daniel Engelbert Blockmans, Steven Vanderschueren, Steven Vanderschueren, Rik Schrijvers, Rik Schrijvers, Rik Schrijvers +23 moredoaj +1 more sourceComparison between idiopathic and VEXAS-relapsing polychondritis: analysis of a French case series of 95 patients
RMD Open, 2022 Objective A new adult-onset autoinflammatory syndrome has been described, named VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic).Vincent Jachiet, Benjamin Terrier, Laurence Bouillet, Claire de Moreuil, Joris Galland, Mathilde Devaux, Mathieu Gerfaud-Valentin, Alexandre Maria, Jean Schmidt, Sylvain Audia, Guillaume Denis, Mohamed-Yacine Khitri, Alexis F Guedon, Maelle le Besnerais, Jean Sebastien Allain, Vincent Grobost, Olivier Kosmider, Anael Dumont, Benjamin Subran, Paola Marianetti-Guingel, Sylvain Palat, Marielle Roux-Sauvat, Pierre Hirsch +22 moredoaj +1 more sourceThe heterogeneity of lung involvement in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome: a case of hypersensitivity pneumonitis-like pattern
Reumatismo
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently characterized disease associated with somatic mutations in the UBA1 gene, which cause dysregulation of ubiquitin-mediated processes.C. Iannone, M.R. Pellico, C. Campochiaro, L. Tescaro, M. Zompatori, A. Caminati, S. Harari, R. Caporali +7 moredoaj +1 more sourceCase report: VEXAS syndrome and literature review
Frontiers in HematologyVEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a novel disorder first described in 2020. Patients are diagnosed by identifying a somatic mutation of the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene.Can Jones, Can Jones, Stanislav Ivanov, Pablo Ferraro, Pablo Ferraro, Souhad Younes, Souhad Younes, Hugo Fernandez +7 moredoaj +1 more sourceClinical and laboratory markers to distinguish VEXAS from Schnitzler's syndrome: data from the AIDA network registries
Frontiers in MedicineBackgroundA substantial overlap in demographic, clinical, and laboratory features can complicate the differential diagnosis between Schnitzler's syndrome and VEXAS syndrome.Valeria Caggiano, Valeria Caggiano, Jessica Sbalchiero, Jessica Sbalchiero, Micol Frassi, Eduardo Martín-Nares, Andrea Hinojosa-Azaola, Mariusz Sikora, Karina Jahnz-Różyk, Francesca Crisafulli, Franco Franceschini, Paolo Airò, Guillermo Arturo Guaracha-Basañez, Jiram Torres-Ruiz, Paolo Sfriso, Sara Bindoli, Chiara Baggio, José Hernández-Rodríguez, Verónica Gómez Caverzaschi, Gerard Espinosa, Henrique A. Mayrink Giardini, Rafael Alves Cordeiro, Andrés González-García, Mercedes Peña Rodríguez, Giuseppe Lopalco, Florenzo Iannone, Ombretta Viapiana, Abdurrahman Tufan, Hamit Kucuk, Pravin Hissaria, Pravin Hissaria, Mark Beecher, Mark Beecher, Amato De Paulis, Amato De Paulis, Ilaria Mormile, Lorenzo Dagna, Lorenzo Dagna, Corrado Campochiaro, Corrado Campochiaro, Antonio Gidaro, Leyla La Cava, Serena Bugatti, Serena Bugatti, Alessandra Milanesi, Alessandra Milanesi, Guillermo Ruiz-Irastorza, Guillermo Ruiz-Irastorza, Matteo Piga, Fabrizio Conti, Paolo Moscato, Daniela Opris-Belinski, Rosetta Vitetta, Cecilia Chighizola, Andreas Recke, Andreas Recke, Fernando Tornero-Romero, Marcella Prete, Marcello Govoni, Giacomo Emmi, Giacomo Emmi, Giacomo Emmi, Perla Ayumi Kawakami-Campos, Paola Triggianese, Paola Triggianese, Carmelo Gurnari, Carmelo Gurnari, Gaafar Ragab, Gaafar Ragab, Alberto Balistreri, Alberto Balistreri, Marcin Ziȩtkiewicz, Marcin Ziȩtkiewicz, Ewa Wiesik-Szewczyk, Bruno Frediani, Bruno Frediani, Claudia Fabiani, Claudia Fabiani, Anna Sicuranza, Anna Sicuranza, Monica Bocchia, Monica Bocchia, Luca Cantarini, Luca Cantarini, Antonio Vitale, Antonio Vitale +85 moredoaj +1 more sourceDevelopment of a Disease Activity Index for the Assessment of VEXAS Syndrome (VEXAS‐DAI)
Arthritis Care &Research, EarlyView.Objective
Vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS) syndrome is characterized by a complex spectrum of inflammatory and hematologic manifestations. Clinical research to identify effective therapies is urgently needed but is hindered by the lack of validated outcome measures.Kevin Byram, Heřman Mann, Danielle Hammond, Onima Chowdhury, Sinisa Savic, Yohei Kirino, Carmelo Gurnari, Maël Heiblig, Thibault Comont, Arsène Mekinian, Mrinal M. Patnaik, Lachelle D. Weeks, Gary Ho, Adam Al‐Hakim, Scott Goldberg, Marcela A. Ferrada, Sophie Georgin‐Lavialle, Peter C. Grayson, Emma M. Groarke, Bhavisha Patel, Megan Sullivan, Sarah A. Buckley, Bryan G. Harder, Raman Garcha, David B. Beck, Matthew J. Koster +25 morewiley +1 more sourceVEXAS syndrome in a female with constitutional monosomy X
EULAR Rheumatology Open: The VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an autoinflammatory disorder that is caused by an acquired deficiency of the UBA1 gene in haematopoietic progenitor cells and predominantly affects elderly males. However, Nikolas Ruffer, Simon Melderis, Olaf Determann, Lana Harder, Isabell Haase, Ina Kötter, Anja Lüdemann, Martin Krusche +7 moredoaj +1 more source
