Autoinflammatory & rare systemic diseases
Human Monocytic Models Reveal Genotype‐Dependent Inflammatory Programs in VEXAS Syndrome
Authors' conclusion
Our UBA1-mutant monocytic cell-line models, representing three distinct genotypes, recapitulate genotype-dependent inflammatory phenotypes that can be modulated by RIPK3 inhibition
Study context
- Population
- Patients with VEXAS syndrome and human monocytic cell lines harboring each major UBA1 mutation79 RNA sequencing (RNA-seq) samples
- Participants
- 13 patients
- Comparison
- UBA1-mutant monocytic cell lines by genotype
- Outcome
- Genotype-dependent inflammatory programs in UBA1-mutant monocytic cell lines and RNASE1 correlation with disease activity
Methodological detailslongitudinal deep phenotyping, whole blood RNA-seq, single-cell RNA-seq, UBA1-mutant human monocytic cell lines
- Longitudinal deep phenotyping
- Whole blood RNA-seq
- Single-cell RNA-seq
- UBA1-mutant human monocytic cell lines
Main finding
As reported in the abstract
RNASE1 correlation with longitudinal disease activity (strongest among genes up-regulated in VEXAS syndrome); up-regulated in patients' monocytes
r = 0.70, false discovery rate < 0.05
Original publication
Human Monocytic Models Reveal Genotype‐Dependent Inflammatory Programs in VEXAS Syndrome. Arthritis Rheumatol. Published 7 September 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →