Results 101 to 110 of about 2,418 (172)

A case of VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome presenting as progressive multisystem involvement with parenchymal infiltrates following infection with Epstein Barr virus

Respirology Case Reports
VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, and somatic) syndrome is a rare multisystem disease affecting predominantly males over 50 and manifesting as widespread progressive inflammatory sequelae and haematological dysfunction.
Jelena Solujic, Phan Nguyen, Peter Bardy, Yao Ly, Emily Lawton   +4 more
doaj   +1 more source

Additional file 5 of Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis

Additional file 5.Clinical features of patients with RP who had UBA1 p.Met41 variants.
Duan, Suying, Luo, Haiyang, Wang, Yunchao, Jiang, Dongbin, Liu, Jiajia, Li, Jiaqi, Zheng, Honglin, Zhao, Taiqi, Liu, Chenyang, Zhang, Hang, Mao, Chengyuan, Zhang, Lei, Xu, Yuming   +12 more
openaire   +1 more source

Allogenic haematopoietic stem cell transplantation in VEXAS: A review of 33 patients

Vacuolation, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a multisystem disease due to a genetic mutation in the ubiquitin-activating enzyme (UBA1).
Ali S. B., Gurnari C.
core   +1 more source

UBA1 Mutations Drive RIPK1-Mediated Cell Death and Monocyte Dysfunction in VEXAS Syndrome

Abstract VEXAS syndrome is a severe adult-onset autoinflammatory disease caused by somatic mutations in UBA1 gene, disrupting cytoplasmic ubiquitin-activating enzyme E1 function in hematopoietic progenitors. The pathogenesis remains poorly understood, particularly how
Paul Breillat, Samuel J. Magaziner, Stéphane Camus, Léa Dionet, Benjamin de Valence, Pierre Sohier, Amine Majdi, Quentin Delcros, Federica Pallotti, Nadia Rivet, Kevin Chevalier, Margot Poux, Pierre-Louis Tharaux, Olivia Lenoir, Abdelrahim Zoued, Olivier Kosmider, David B. Beck, Benjamin Terrier   +17 more
openaire   +1 more source

Das VEXAS-Syndrom - ein Chamäleon der entzündlichen Syndrome

/german: Das VEXAS-Syndrom ist eine autoinflammatorische systemische Erkrankung, die erstmals 2020 beschrieben wurde. Sie betrifft hauptsächlich ältere Männer und wird durch eine somatische Mutation im UBA1-Gen auf dem X-Chromosom verursacht, was zu ...
Vallelian, Florence; https://orcid.org/, Leggeri, Elisa, Pangalu, Athina; https://orcid.org/   +2 more
core   +1 more source

Síndrome VEXAS con vasculitis leucocitoclástica

VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), first described in 2020, is a monogenic autoinflammatory disease caused by somatic mutations in the UBA1 gene, located on the X chromosomeand therefore predominantly expressed in ...
Trujillo-Aguilera, Antonio, Soriano-Gandullo, Silvia, Arenas-Montes, Javier, Aguilar-Alba, Salvador, Cortés-Rodríguez, Begoña   +4 more
core   +1 more source

PO:22:033 | Unraveling VEXAS syndrome: when skin manifestations and monoclonal gammopathy precede hematological myeloid alterations

Reumatismo
Background. VEXAS (Vacuoles, Enzyme E1, X-linked, Autoinflammatory, Somatic) syndrome is a rare adult disease caused by somatic mutations in the UBA1 gene within hematopoietic stem cells (1). These mutations compromise the ubiquitin-activating E1 enzyme
Società Italiana di Reumatologia
doaj  

Unravelling VEXAS syndrome: shedding light on a recently recognised medical condition

VEXAS syndrome, caused by somatic UBA1 mutations in haematopoietic cells, presents a complex clinical spectrum. A patient in his 70s initially exhibited urticarial vasculitis-like symptoms, leading to inconclusive dermatological investigations and varied
Orakzai, Abdullah A, Raza, Syeda Sarah, Bodrog, Amy, Salman, Ahmed   +3 more
core   +1 more source

Drug-Free Remission of VEXAS Syndrome Without Stem Cell Transplantation. [PDF]

Cureus
Warren J, Smylie C, Milne A.
europepmc   +1 more source

VEXAS syndrome: a comprehensive clinicopathologic and genetic analysis of a predominantly Indian cohort. [PDF]

J Hematop
Chinnam D, Kerkar A, Gulati R, Bhatia P, Sreedharanunni S, Sharma P, Singh M, Shah S, Baskaran N, Puligari R, Ganju NA, Mruthyunjaya P, K S L, Bishnoi A, De D, Veeravalli SCM, Khushoo V, Ganju AK, Padhan P, Antony P, Gupta V, Balakrishnan A, Sharma A, Gupta DG, Sharma A, Malhotra P.   +25 more
europepmc   +1 more source