Results 51 to 60 of about 1,455 (196)

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

, 2020
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.
Abu-Asab, Mones, Aksentijevich, Ivona, Asmar, Anthony, Balanda, Nicholas, Barron, Karyl, Beck, David, Brooks, Stephen, Burgess, Shawn, Calvo, Katherine, Carmona-Rivera, Carmelo, Chae, Jae, Colbert, Robert, Collins, Jason, DellOrso, Stefania, Deng, Zuoming, Deuitch, Natalie, Dillon, Laura, Dulau-Florea, Alina, Ferrada, Marcela, Gadina, Massimo, Gahl, William, Goodspeed, Wendy, Grayson, Peter, Groarke, Emma, Gupta, Sarthak, Gutierrez-Rodrigues, Fernanda, Hoffmann, Patrycja, Hourigan, Christopher, Jones, Anne, Kaplan, Mariana, Kastner, Daniel, Lachmann, Helen, Laird, Ryan, Lee, Chyi-Chia, Malicdan, May, Manthiram, Kalpana, Mullikin, James, Nakabo, Shuichiro, Nehrebecky, Michele, Novacic, Danica, Oda, Hirotsugu, Ombrello, Amanda, Ospina Cardona, Daniela, Patel, Bhavisha, Pei, Wuhong, Retterer, Kyle, Rominger, Emily, Rosenzweig, Sofia, Ross, Daron, Rowczenio, Dorota, Savic, Sinisa, Sikora, Keith, Solomon, Benjamin, Trick, Megan, Tsai, Wanxia, Wang, Weixin, Wells, Kristina, Werner, Achim, Wigerblad, Gustaf, Wu, Zhijie, Xu, Lisha, Young, Neal   +61 more
core   +1 more source

Extensive multiple organ involvement in VEXAS syndrome [PDF]

, 2021
A 55-year-old Japanese man was diagnosed with VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, which is a newly documented adult-onset autoinflammatory disease caused by somatic UBA1 mutations [1], after four years of symptoms ...
Akiyama Masashi, Nishida Tetsuya, Ogi Tomoo, Sato Juichi, Takahashi Noriyuki, Takahashi Yasuhiro, Takeichi Takuya, Yamamura Masahiro   +7 more
core   +1 more source

Comparison 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 more
doaj   +1 more source

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

Mechanisms of hematopoietic clonal dominance in VEXAS syndrome. [PDF]

Nat Med
Molteni R, Fiumara M, Campochiaro C, Alfieri R, Pacini G, Licari E, Tomelleri A, Diral E, Varesi A, Weber A, Quaranta P, Albano L, Gaddoni C, Basso-Ricci L, Stefanoni D, Alessandrini L, Degl'Innocenti S, Sanvito F, Bergonzi GM, Annoni A, Panigada M, Cantoni E, Canarutto D, Xie SZ, D'Alessandro A, Di Micco R, Aiuti A, Ciceri F, De Luca G, Dagna L, Matucci-Cerinic M, Merelli I, Cenci S, Scala S, Cavalli G, Naldini L, Ferrari S.   +36 more
europepmc   +2 more sources

Clinical and laboratory markers to distinguish VEXAS from Schnitzler's syndrome: data from the AIDA network registries

Frontiers in Medicine
BackgroundA 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 more
doaj   +1 more source

VEXAS SYNDROME – A NEW CHALLENGE AT THE INTERFACE OF RHEUMATOLOGY AND HEMATOLOGY: A REVIEW PAPER [PDF]

Research Objectives: This review summarizes current knowledge on VEXAS syndrome—its genetics, pathophysiology, symptoms, diagnosis, treatment, and prognosis—highlighting its clinical relevance.
Anna Opalińska, Antoni Kujawski, Cezary Lubas, Joanna Kłosowska, Kacper Szeląg, Karolina Błądzińska, Maciej Błądziński, Małgorzata Zach, Paula Folta, Piotr Świerczek   +9 more
core   +2 more sources

Case report: VEXAS syndrome and literature review

Frontiers in Hematology
VEXAS 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 more
doaj   +1 more source

COVID-19 and autoinflammatory diseases: prevalence and outcomes of infection and early experience of vaccination in patients on biologics [PDF]

, 2021
Objectives: The systemic autoinflammatory diseases are rare conditions; to date, data on coronavirus disease 2019 (COVID-19) infection and vaccination safety are scarce.
Lachmann, HJ, Papadopoulou, C, Peet, CJ, Sombrito, BRM, Wood, MR   +4 more
core   +1 more source

VEXAS 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 more
doaj   +1 more source