Results 21 to 30 of about 954 (158)
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described, late-onset, acquired autoinflammatory disorder caused by mutations in the UBA1 gene. The various clinical manifestations of VEXAS broadly divided into inflammatory or haematological.
Al-Hakim, A, Savic, S
openaire +3 more sources
Navigating through uncertainty-Experience from the UK national VEXAS MDT. [PDF]
Summary The objective of this study was to describe the establishment, structure and influence of the United Kingdom national multidisciplinary team (MDT) for vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic (VEXAS) syndrome and to assess its clinical outputs and perceived value among participating clinicians.
Pietsch D +3 more
europepmc +2 more sources
The VEXAS (vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) syndrome is an acquired autoinflammatory disease, which is based on somatic mutations in the UBA1 gene and described as an hematoinflammatory disease. It is clinically expressed as an inflammatory systemic disease with general vegetative symptoms and organ manifestations of the skin ...
M, Krusche +3 more
+6 more sources
Recurrent superior orbital fissure syndrome associated with VEXAS syndrome
Purpose To describe a case of recurrent orbital inflammation and superior orbital fissure syndrome associated with VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome. Case presentation VEXAS syndrome is a recently identified multi-
Katie Myint +3 more
doaj +1 more source
VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly-described adult-onset inflammatory syndrome characterized by vacuoles in myeloid and erythroid precursor cells and somatic mutations affecting methionine-41 (p.Met41) in
Huijun Huang +12 more
doaj +1 more source
Performance Characteristics of Anti-Collagen II Antibodies in Relapsing Polychondritis and Related Diseases: Prospective Analysis, Systematic Review, and Meta-Analysis. [PDF]
Objective Relapsing polychondritis (RP) is a rare disease defined by recurrent cartilaginous inflammation. Anti–collagen II (Col2) antibodies have been proposed as a diagnostic biomarker for RP, but their performance characteristics are not well defined.
Stonick K +6 more
europepmc +2 more sources
Expanding the VEXAS diagnostic workup: the role of peripheral blood cytological analysis
VEXAS syndrome is a newly described autoinflammatory entity characterized by somatic mutations in the UBA1 X-linked gene in hematopoietic progenitor cells.
Chiara Baggio +23 more
doaj +1 more source
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently characterized disease associated with somatic mutations in the UBA1 gene, which cause dysregulation of ubiquitin-mediated processes.
C. Iannone +7 more
doaj +1 more source
VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia
VEXAS syndrome stands for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome. The syndrome is a combined hematological and rheumatological condition caused by a somatic mutation in the UBA1.
Janne Austestad +5 more
doaj +1 more source

