Lupus & antiphospholipid syndrome
Single-centre comparison of non-familial, familial and monogenic lupus
Authors' conclusion
Overall, clinical phenotype is a poor indicator of familial or monogenic lupus.
Study context
- Population
- Patients with systemic lupus erythematosus (SLE) in a population with high rates of consanguinity24 multiplex families
- Participants
- 62 vs 95
- Comparison
- Familial lupus vs non-familial lupus; monogenic vs other familial lupus
- Familialn = 62
- Non-familialn = 95reference
- Outcome
- Clinical and laboratory phenotype, familial vs non-familial
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
Odds ratio
0.91
P = 1.61 × 10-5
age at presentation 18 y vs 26 y
Odds ratio
2.7
P = 0.013
synovitis
Odds ratio
0.25
P = 1.9 × 10-3
high level of dsDNA antibodies
Observational data: associations, not effects.
Further findings
| Outcome | OR | P value |
|---|---|---|
| Monogenic vs other familial lupusMonogenic vs Other familial · age at presentation 6 y vs 19 y | 0.82 | P = 2.13 × 10-3 |
| Monogenic vs other familial lupusMonogenic vs Other familial · non-biased male-to-female ratio | P = 0.077 | |
| Monogenic vs other familial lupusMonogenic vs Other familial · expansion of exhausted CD4+ T cells (CD4+CD45RA+PD-1+) | P = 1.7 × 10-4 |
Exome sequencing diagnostic rate (subset of familial cases)
- Diagnostic rate
- 36%
Original publication
Single-centre comparison of non-familial, familial and monogenic lupus. Rheumatology (Oxford). Published 4 June 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →