Lupus & antiphospholipid syndrome
Genetic and epigenetic dysregulation of CR1 is associated with catastrophic antiphospholipid syndrome
Authors' conclusion
Genetic or epigenetic-mediated CR1 deficiency is a potential hallmark of CAPS and predicts response to C5 inhibition.
Study context
- Population
- Patients with catastrophic antiphospholipid syndrome (CAPS) and healthy controls
- Participants
- 9 vs 35
- Comparison
- CAPS vs healthy controls
- CAPSn = 9
- Healthy controls (HCs)n = 35reference
- Outcome
- CR1 expression on erythrocytes
Methodological detailsCRISPR/Cas9 genome editing, multiomics analysis
- CRISPR/Cas9 genome editing
- Multiomics analysis
Main finding
As reported in the abstract
Further findings
Circulating immune complexes (acute CAPS, n = 3 vs HCs, n = 3) · acute CAPS
C5 inhibition
- Five patients treated with C5 inhibition, which mitigated thrombosis
- 5
Original publication
Genetic and epigenetic dysregulation of CR1 is associated with catastrophic antiphospholipid syndrome. Ann Rheum Dis. Published 21 August 2025. doi:10.
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