Immunology
VEXAS综合征
VEXAS SyndromeA recently discovered autoinflammatory syndrome caused by somatic mutations in the UBA1 gene, characterized by myelodysplasia, systemic inflammation, and hematologic malignancies. / 一种由UBA1基因体细胞突变引起的自身炎症综合征，以骨髓增生异常、全身性炎症和血液恶性肿瘤为特征。
- Knowledge type
- 自然理论
- First proposed or discovered
- 2019
- Proposer
- David Beckman
- Creator
- 农场主
- Last updated
- 2026-11-10 22:06:04
Sub-knowledge points
Autoinflammatory diseaseMyelodysplastic syndromeSomatic mutation
Higher-order knowledge points
Innate immunityHematopoiesis
Main parameters and performance indicators
Gene: UBA1Mutation: p. Ala478SerMechanism: Spliceosome dysfunction
Open problems
Long-term therapeutic efficacyGenotype-phenotype correlation
Related literature
ranked by community starsVEXAS Syndrome Associated With a Non‐Canonical UBA1 p. Ala478Ser Variant: Diagnostic and Clinical ImplicationsOpen source
Related products and links
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Creation and modification trail
1 recordsRecord title: VEXAS Syndrome.
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