Results 91 to 100 of about 2,299 (157)

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

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

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  

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

Clinical characteristics and a screening tool for VEXAS syndrome: a case-control study from China. [PDF]

Orphanet J Rare Dis
Yao M, Shen M, Huang C, Jiao Y, Sha Y, Jiang X, Yang X, Feng J, Xu N, Zhu W, Lacombe V, Mascaro JM, Arostegui JI, Zhang Y, Zeng X.   +14 more
europepmc   +1 more source

A neurologist's guide to VEXAS syndrome: Differentiating somatic autoinflammation from autoimmune mimics. [PDF]

Intractable Rare Dis Res
Mitsoudis N, Nikolakakis I, Apsemidou A, Bakirtzis C, Grigoriadis N.   +4 more
europepmc   +1 more source

Allogeneic hematopoietic stem cell transplantation for VEXAS syndrome: A review and a case report. [PDF]

Clin Hematol Int
Nagae K, Muranushi H, Nannya Y, Maeda T.
europepmc   +1 more source

VEXAS Syndrome: A Newly Recognized Entity to Consider in Systemic Disease-Associated Interstitial Lung Disease. [PDF]

Open Respir Arch
Cabrera-Cesar E, Martin SS, Carrasco GM.
europepmc   +1 more source

Hypomethylating agents in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS): A systematic review. [PDF]

Br J Haematol
Hoff FW, Trikha R, Groarke EM, Patel BA.
europepmc   +1 more source