Results 111 to 120 of about 1,455 (196)

Understanding Myelodysplasia and Inflammation Through the Lense of VEXAS Syndrome: A Review

Cells
VEXAS syndrome, a monogenic X-linked disorder resulting from mutations in the UBA1 gene, has emerged as a key model for unraveling the links between systemic inflammatory or autoimmune diseases (SIAD) and myelodysplastic syndromes (MD).
Louis Wolff, Leo Caratsch, Lin-Pierre Zhao, Sabine Blum, Denis Comte   +4 more
doaj   +1 more source

Clinical, Morphological and Clonal Progression of VEXAS Syndrome in the Context of Myelodysplasia Treated with Azacytidine [PDF]

, 2022
Alessio, Maria Grazia, Baldini, Luca, Barbullushi, Kordelia, Bolli, Niccolò, Bosi, Alessandro, Cavallaro, Francesca, Fabris, Sonia, Fracchiolla, Nicola, Lionetti, Marta, Manzoni, Marco, Migliorini, Anna Chiara, Montefusco, Vittorio, Neri, Antonino, Rampi, Nicolò, Salerio, Simone, Sciumè, Mariarita, Tagliaferri, Elena   +16 more
core   +1 more source

Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis [PDF]

, 2022
Abeck, Dietrich, Cordts, Isabell, Deschauer, Marcus, Gauck, Darja, Goetze, Katharina S., Guenthner, Roman, Haack, Tobias B., Haertl, Johanna, Hammitzsch, Ariane, Hecker, Judith S., Hemmer, Bernhard, Moog, Philipp, Park, Joohyun, Schoser, Benedikt   +13 more
core   +1 more source

Role of Janus kinase Inhibitors (JAKis) in Autoimmune Disorders: Review [PDF]

JAK inhibitors (JAKis) comprise a crucial therapeutic tool for managing patients with immune-mediated inflammatory disorders. Although often perceived as a uniform class of medications thought to be largely interchangeable, notable variances exist in ...
H. Shehata, Lamia, M. Nasr, Mohamed, Naser, Maged   +2 more
core   +2 more sources

What should neurologists expect to observe in relapsing polychondritis and VEXAS?

Frontiers in Immunology
Relapsing polychondritis (RP) and VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) are two clinically overlapping conditions in which neurological complications remain uncommon.
Mickael Bonnan, Quang Tuan Rémy Nguyen, Etienne Crickx, Etienne Crickx   +3 more
doaj   +1 more source

The Challenging and Unique Diagnosis of VEXAS Syndrome: A Case Report

Journal of Investigative Medicine High Impact Case Reports
VEXAS syndrome, a myeloid-driven autoinflammatory disorder associated with somatic mutations in the UBA1 gene, was first described in 2020 and presents significant diagnostic challenges due to its complex clinical features, including hematological ...
Jowan Al-Nusair, Olivia Lim, Leena Alhusari, Abdelwahap Elghezewi, Mahmoud Abdallah, Mohamed Alshal, Toni Pacioles   +6 more
doaj   +1 more source

UBA1 Screening in Sweet Syndrome With Hematological Neoplasms Reveals a Novel Association Between VEXAS and Chronic Myelomonocytic Leukemia [PDF]

, 2022
Gurnari, Carmelo, Maciejewski, Jaroslaw P, Mannion, Peter, Pagliuca, Simona, Pandit, Ishani, Rogers, Heesun J, Visconte, Valeria, Voso, Maria Teresa   +7 more
core   +1 more source

Clinical features of immunodeficiency and severe infection in VEXAS syndrome: a case series

Discover Medicine
Background VEXAS syndrome is a recently described X-linked somatic autoinflammatory syndrome which manifests with exaggerated hyperinflammation, an MDS-like syndrome, and probable immunodeficiency. Objective The objective of this study is to describe the
Justin Smith, Dylan Johnson, Mohammed Osman, Jason Soo, Stephanie Keeling   +4 more
doaj   +1 more source

Allogeneic hematopoietic cell transplantation for autoinflammatory disorders [PDF]

\ua9 The Author(s) 2025. The understanding of autoinflammatory disorders, which are caused by the dysregulated activation of the innate immune system, has improved with the discovery of new diseases and the expansion of phenotypes.
Gennery AR, Kamiya T, Kanegane H, Miyamoto S, Mori T, Nishikomori R, Ohnishi H   +6 more
core  

Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome [PDF]

, 2022
Conti, Giovanni, Emmi, Giacomo, Giani, Teresa, La Torre, Francesco, Maggio, Maria Cristina, Marino, Achille, Parronchi, Paola, Renieri, Alessandra, Tosi, Gian Marco   +8 more
core   +1 more source