Genetic and phenotypic landscape of monogenic lupus: insights from an international cohort
Authors' conclusion
This large international cohort highlights the clinical and genetic heterogeneity of monogenic lupus. C1Q and DNASE1L3 mutations account for most cases and display distinct phenotypic profiles.
Study context
- Population
- Children with genetically confirmed monogenic lupus diagnosed before age 14 years, centres in Saudi Arabia, Iran, Russia, Italy, Palestine and Oman, 2000–2025
- Participants
- 100 children
- Outcome
- Clinical, immunologic and genetic features of monogenic lupus
Methodological detailsmulticentre, international, multivariable logistic regression
- Multicentre
- International
- Multivariable logistic regression
Main finding
As reported in the abstract
- Median age at onset
- 24 months
- Homozygous pathogenic mutations
- 69%
- C1Q (complement pathway)
- 26%
- DNASE1L3 (type I interferon pathway)
- 25%
- Mucocutaneous features
- 84%
- Musculoskeletal features
- 74%
- Neurological features
- 42%
- Median Paediatric Systemic Disease Index score
- 3
- Mortality rate
- 16%
Observational data: associations, not effects.
Further findings
Genotype-phenotype associations
- Distinct ethnic clustering of specific gene mutations
- C1Q pathway defects significantly associated with neurologic involvement, recurrent infections and anti-SSA/SSB positivity
- DNASE1L3-related disease inversely associated with several clinical features, incl. recurrent infections
Original publication
Genetic and phenotypic landscape of monogenic lupus: insights from an international cohort. Lupus Sci Med. Published 18 March 2026. doi:10.
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