A deep dive into monogenic lupus: insights on DNASE1L3 mutation
Study context
- Population
- Childhood-onset SLE (cSLE) followed in paediatric rheumatology tertiary centres in the Sultanate of Oman15 families
- Participants
- 33 participants
- Exposure
- Monogenic cSLE caused by DNASE1L3 mutation vs sporadic cSLE
- DNASE1L3n = 33
- Outcome
- Phenotypic characteristics and outcomes of monogenic lupus caused by DNASE1L3
Methodological detailsmulticentre, retrospective chart review, comparison with sporadic cSLE cohort
- Multicentre
- Retrospective chart review
- Comparison with sporadic cSLE cohort
Main finding
As reported in the abstract
Phenotype of DNASE1L3 monogenic cSLE
- Median age of disease onset
- 4 years
- Onset before age 5 years
- 18 (55%)
- Boys
- 20 (61%)
- Hypocomplementemic urticarial vasculitis (HUV) symptoms: arthritis
- 82%
- HUV symptoms: urticarial vasculitis
- 79%
- HUV symptoms: fever
- 49%
- HUV symptoms: abdominal pain
- 36%
- HUV symptoms: conjunctivitis
- 25%
- Nephritis (higher frequency than sporadic cohort)
- 60%
- Pulmonary haemorrhage (higher frequency than sporadic cohort)
- 15%
- SLE disease activity index score on presentation, ± SD
- 13.3 ± 3.64
- Disease damage
- 14 (42%)
- Mean damage index score, ± SD
- 2.14 ± 1.12
Observational data: associations, not effects.
Original publication
A deep dive into monogenic lupus: insights on DNASE1L3 mutation. Rheumatology (Oxford). Published 12 December 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →