Discordance between disease activity and long-term outcomes in DNASE1L3 deficiency: a multicentre longitudinal cohort study
Authors' conclusion
In the largest DNASE1L3 deficiency cohort, reduction in clinical disease activity does not prevent progressive organ damage.
Study context
- Population
- Patients with genetically confirmed DNASE1L3 deficiency followed at paediatric rheumatology tertiary centres in Oman and the UAE22 families
- Participants
- 57 patients
- Exposure
- Last paediatric assessment vs most recent adult follow-up
- Outcome
- Damage accrual, flare rates, hospitalisation frequency, serious infections and mortality
Methodological detailsmulticentre, longitudinal
- Multicentre
- Longitudinal
Main finding
As reported in the abstract
Mean SLICC/ACR DI, last paediatric assessment vs most recent adult follow-up
- Mean Systemic Lupus Interntational Collaborating Clinics (SLICC)/ACR DI increased numerically from 0.37±0.85 to 0.72±1.17
- p=0.295
Observational data: associations, not effects.
Further findings
Mortality, following transition
- Mortality numerically higher following transition, increasing from 8.8% to 13.5%
- P = 0.125
Disease activity (SLE Disease Activity Index scores) over follow-up
- Significant reduction in disease activity, 9 vs 4
- P < 0.001
Lupus nephritis
- Proportion with LN increased from 34% to 46%
- P = 0.07
Pulmonary involvement · follow-up
- Pulmonary involvement from 3.7% versus 11% at follow-up
- P = 0.289
Osteoporosis
- Osteoporosis increased from 23% to 41%
- P = 0.065
Original publication
Discordance between disease activity and long-term outcomes in DNASE1L3 deficiency: a multicentre longitudinal cohort study. Lupus Sci Med. Published 9 September 2026. doi:10.
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