Results 21 to 30 of about 954 (158)

An update on VEXAS syndrome

open access: yesExpert Review of Clinical Immunology, 2022
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]

open access: yesBr J Haematol
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

VEXAS-Syndrom

open access: yesZeitschrift für Rheumatologie
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

open access: yesJournal of Ophthalmic Inflammation and Infection, 2023
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

open access: yesExperimental Hematology & Oncology, 2021
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]

open access: yesArthritis Care Res (Hoboken)
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

VEXAS syndrome [PDF]

open access: yesInternational Journal of Hematology, 2022
Kaori Uchino   +9 more
  +5 more sources

Expanding the VEXAS diagnostic workup: the role of peripheral blood cytological analysis

open access: yesFrontiers in Immunology
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

The heterogeneity of lung involvement in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome: a case of hypersensitivity pneumonitis-like pattern

open access: yesReumatismo
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

open access: yesCase Reports in Hematology, 2023
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

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