Results 101 to 110 of about 1,455 (196)
Nonischemic Cardiac Manifestations in VEXAS Syndrome
JAMA Network OpenThis case series reports on the clinical presentation, laboratory findings, imaging characteristics, treatments, and outcomes of nonischemic cardiac manifestations in patients with VEXAS syndrome with confirmed pathogenic UBA1 alterations.Robert, Marie, Mathian, Alexis, Lacombe, Valentin, Lobbes, Hervé, Adélaïde, Léopold, Le Besnerais, Maelle, Dacher, Jean-Nicolas, Terrier, Benjamin, Mékinian, Arsène, Bourguiba, Rim, Georgin-Lavialle, Sophie, Hadjadj, Jérome, Nguyen, Yann, Mouloudj, Dalila, Heiblig, Mael, Aloui, Hassina, Mc Avoy, Chloé, Ardois, Samuel, Campochiaro, Corrado, Maria, Alexandre, Coustal, Cyrille, Comont, Thibault, Lazaro, Estibaliz, Lifermann, François, Le Guenno, Guillaume, Grobost, Vincent, Outh, Roderau, Campagne, Julien, Dor-Etienne, Anais, Garnier, Alice, Jamilloux, Yvan, Dossier, Antoine, Samson, Maxime, Audia, Sylvain, Nicolas, Barbara, de Maleprade, Baptiste, de Sainte Marie, Benjamin, Faucher, Benoit, Bouaziz, Jean-David, Broner, Jonathan, Dumain, Cyril, Antoine, Carole, Carpentier, Benjamin, Castel, Brice, Lartigau-Roussin, Céline, Crickx, Etienne, Volle, Geoffroy, Fayard, Damien, Decker, Paul, Moulinet, Thomas, Dumont, Anael, Nguyen, Alexandre, Aouba, Achille, Martellosio, Jean-Philippe, Levavasseur, Matthieu, Puigrenier, Sébastien, Antoine, Pascale, Giraud, Jean-Thomas, Hermine, Olivier, Lacout, Carole, Martis, Nihal, Karam, Jean-Denis, Chasset, François, Arnaud, Laurent, Marianetti Guingel, Paola, Deligny, Christophe, Chazal, Thibaud, Woaye-Hune, Pascal, Roux-Sauvat, Marielle, Meyer, Aurore, Hirsch, Pierre, Abisror, Noémie, Fenaux, Pierre, Kosmider, Olivier, Jachier, Vincent, Fain, Olivier +75 moreopenaire +3 more sourcesVEXAS syndrome: Focus on dermatological manifestations and their histopathological correlate
JEADV Clinical PracticeBackground VEXAS ‘Vacuoles, E1 Enzyme, X‐linked, Autoinflammatory, Somatic syndrome’ is a rare autoinflammatory syndrome, first described in October 2020 by Beck et al.Sofie Engelen, Anne‐Catherine Dens, Frederik Staels, Rik Schrijvers, Daniel Blockmans, Steven Vanderschueren, Albrecht Betrains, F. J. Sherida H. Woei‐A‐Jin, Arno Vanstapel, Franscesca Bosisio, Petra De Haes +10 moredoaj +1 more sourceClonal haematopoiesis across the age spectrum of vasculitis patients with Takayasus arteritis, ANCA-associated vasculitis and giant cell arteritis. [PDF]
OBJECTIVES: Ageing and inflammation are associated with clonal haematopoiesis (CH), the emergence of somatic mutations in haematopoietic cells. This study details CH in patients with systemic vasculitis in association with clinical, haematological and ...Alemu, Lemlem, Calado, Rodrigo, Gadina, Massimo, Grayson, Peter, Gutierrez-Rodrigues, Fernanda, Hironaka, Dalton, Jones, Adrianna, Patel, Bhavisha, Quinn, Kaitlin, Rankin, Cameron, Sikora, Keith, Wells, Kristina, Young, Neal +12 morecore +1 more sourceIntrapatient competition of VEXAS syndrome and CML clones [PDF]
, 2023 Balabanov, Stefan, Becker, Mike Oliver, Djerbi, Nadia, Manz, Markus G, Roncador, Marco, Zimmermann, Kathrin +5 morecore +1 more sourceVEXAS without vacuoles: Linking genotype to phenotype
eJHaemIntroduction VEXAS syndrome is a rare condition characterized by somatic mutations in the ubiquitin‐like modifier activating enzyme 1 (UBA1) gene and a constellation of clinical/morphologic findings, including the presence of cytoplasmic vacuoles within ...Sara Zhukovsky, Anton Rets, Tawnie Braaten, Ami B. Patel +3 moredoaj +1 more sourceSuccessful treatment with fludarabine and cyclophosphamide in a VEXAS syndrome patient with associated myelodysplastic syndrome: a case report and systematic review
Frontiers in OncologyVacuoles, E1 syndrome, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a chronic inflammatory disorder that affects various organ systems. It is associated with hematologic malignancies and is generally refractory to therapies.Polina Bellman, Jesus D. Gonzalez-Lugo, Moazzam Shahzad, Moazzam Shahzad, Muhammad Kashif Amin, Muhammad Fareed Khalid, Nahid Suleman, Nausheen Ahmed, Anurag K. Singh, Abdulraheem Yacoub, Da Zhang, Joseph P. McGuirk, Muhammad Umair Mushtaq +12 moredoaj +1 more sourceNovel insights into the clinical features, genetic spectrum and clonal evolution of patients carrying NLRP3 mosaicism [PDF]
NLRP3 mosaicism is a well-established mechanism causing the monogenic autoinflammatory disease named cryopyrin associated periodic syndromes (CAPS). The number of reported patients with NLRP3 mosaicism is small, and the knowl edge about the long-term ...Andreu Barasoain, Marta, Angosto Bazarra, Diego, Aparicio, Maria, Baselga, Eulalia, Bonet, Nuria, Callejas Rubio, Jose Luis, Clemente, Daniel, Fernandez Dominguez, Luis, Garcia Herrero, Juan, Hurtado Navarro, Laura, Jiménez Treviño, Santiago, Lezana Rosales, Jose Miguel, Lima, Olalla, Mascaro, Jose M., Palmou Fontana, Natalia, Pesqué, David, Remesal, Agustin, Riera Monroig, Josep, Sanchez Calvin, Maria Teresa, Souto, Alejandro +19 morecore +1 more sourceVacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome presenting as recurrent aseptic peritonitis in a patient receiving peritoneal dialysis: a case report
BMC NephrologyBackground Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by mutations in the ubiquitin-activating enzyme1 (UBA1) gene and characterised by an overlap between autoinflammatory and haematologic disorders.Natsuki Fukuda, Daisuke Kanai, Kaoru Hoshino, Yuriko Fukuda, Ryutaro Morita, Yuki Ishikawa, Tomohiko Kanaoka, Yoshiyuki Toya, Yohei Kirino, Hiromichi Wakui, Kouichi Tamura +10 moredoaj +1 more sourceAzacytidine Treatment for VEXAS Syndrome
HemaSphere, 2021 Raaijmakers, Marc, Hermans, Maud, Aalbers, Anna, Rijken, Melissa, Dalm, Virgil A.S.H., van Daele, Paul, Valk, Peter +6 moreopenaire +4 more sources
