VEXAS syndrome: Expanding the clinical and molecular spectrum

•CNS involvement is exceedingly rare in VEXAS syndrome.•CNS involvement in VEXAS may be associated with a strong neutrophil signature.•Neutrophil signature may help to define the molecular basis of inflammation in UBA1-related diseases and nuance the clinical phenotypes.

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Bibliographic Details
Published in:Joint, bone, spine : revue du rhumatisme bone, spine : revue du rhumatisme, 2023-05, Vol.90 (3), p.105531, Article 105531
Main Authors: Robert, Marie, Berleur, Marie, Gaudemer, Augustin, Crow, Yanick J., Frémond, Marie-Louise, Sacré, Karim
Format: Article
Language:English
Subjects:
Central nervous system
Humans
Life Sciences
Mutation
Myelodysplastic Syndromes - genetics
Neutrophil signature
Skin Diseases, Genetic
UBA1
VEXAS syndrome
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Description
Summary:•CNS involvement is exceedingly rare in VEXAS syndrome.•CNS involvement in VEXAS may be associated with a strong neutrophil signature.•Neutrophil signature may help to define the molecular basis of inflammation in UBA1-related diseases and nuance the clinical phenotypes.
ISSN:1297-319X
1778-7254
DOI:10.1016/j.jbspin.2023.105531