Results 121 to 130 of about 6,714 (194)

DP096 | COMBINATION OF 5-AZACITIDINE AND RUXOLITINIB IN VEXAS SYNDROME: A RETROSPECTIVE STUDY

Haematologica
Introduction: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an autoinflammatory condition caused by somatic UBA1 mutations in hematopoietic progenitors, frequently associated with cytopenias and myelodysplastic syndromes ...
G.M. Bergonzi, E. Cozzo, A. Tomelleri, C. Piccolo, G. Scorpio, L. Vago, F. Ciceri, L. Dagna, C. Campochiaro, E. Diral   +9 more
doaj  

Decoding Cytoplasmic Vacuolization: Unraveling the Diagnostic Challenges of VEXAS Syndrome

Turkish Journal of Hematology
Taner Tan, Mustafa Cem Bülbül, Merve Kaysin, Ibrahim Öner Doğan, Olga Meltem Akay, Sinem Cıvrız Bozdağ   +5 more
doaj   +1 more source

A Case of VEXAS Syndrome Initially Masked as Myelodysplastic Syndrome: Importance of Marrow Vacuolization and UBA1 Testing: A Case Report. [PDF]

Am J Case Rep
Shahverdi E, Mundmann P, Pohlkamp C, Dirare S, Hussein Mohamed I, Semerci H, Petz C.   +6 more
europepmc   +1 more source

Incidence, Clinical Associations, and Co-Mutation Patterns of UBA1 Mutations in MDS

Blood, 2022
Maria Sirenko, Elsa Bernard, David B. Beck, Maria Creignou, Dylan Domenico, Andrea Farina, Juan E Arango, Olivier Kosmider, Robert P. Hasserjian, Martin Jadersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Matilde Y Follo, Felicitas R. Thol, Lurdes Zamora, Ronald Feitosa Pinheiro, Andrea Pellagatti, Harold K. Elias, Detlef Haase, Christina Ganster, Lionel Ades, Magnus Tobiasson, Laura Palomo, Matteo G. Della Porta, Kety Huberman, Pierre Fenaux, Monika Belickova, Michael R. Savona, Virginia M. Klimek, Fabio Pires de Souza Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Solé, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Seishi Ogawa, Michaela Fontenay, Joop H. Jansen, Jose Cervera, Benjamin L. Ebert, Rafael Bejar, Peter L Greenberg, Norbert Gattermann, Luca Malcovati, Mario Cazzola, Eva Hellström-Lindberg, Elli Papaemmanuil   +52 more
openaire   +2 more sources

Large-Vessel Vasculitis With Autoimmune Myelodysplastic Syndrome: An Uncommon Case of Large-Vessel Vasculitis With Cytopenia That Is Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic Syndrome (VEXAS) Negative. [PDF]

Cureus
George P S B, John A, Krishnamoorthy S, Grace Jacob C, Chandak S.   +4 more
europepmc   +1 more source

Rapid cutaneous remission response to tofacitinib and systemic corticosteroids in VEXAS syndrome with a novel UBA1 mutation. [PDF]

JAAD Case Rep
Wang Z, Shi H, Jiang Y.
europepmc   +1 more source

A modular Uba1-nanobody fusion enables selective ubiquitin transfer to tagged E2 enzymes. [PDF]

J Biol Chem
Wijne C, D'Amico F, Pérez Berrocal DA, Mulder MPC, Ploegh HL, Gan J.   +5 more
europepmc   +1 more source

Independent mechanisms of inflammation and myeloid bias in VEXAS syndrome. [PDF]

Nature
Narendra VK, Das T, Wierciszewski LJ, Londoner RJ, Morrison JK, Martindale P, Devine T, Chen K, Trombetta M, Kanno Y, Casiano AE, de Stanchina E, Lareau CA, Lowe SW, Gitlin AD.   +14 more
europepmc   +1 more source

Decoding VEXAS syndrome: emerging insights into pathogenesis and clinical management. [PDF]

Curr Opin Rheumatol
Fiumara M, Campochiaro C, Molteni R.
europepmc   +1 more source

Neutrophils take center stage in VEXAS syndrome pathogenesis. [PDF]

J Clin Invest
Tambralli A, Knight JS.
europepmc   +1 more source