ArticleLupus science & medicine2026
Genetic and phenotypic landscape of monogenic lupus: insights from an international cohort.
Article in Lupus science & medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.
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1 citing paper in PubMed, 1 synthesis or guideline pooled it.
- Unraveling the Clinical Spectrum of DNASE1L3 Deficiency: Insights from Case Series and Systematic Literature Review.Current rheumatology reports · 2026Pooled it
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16 authors.
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Abstract
objectiveTo characterise the clinical, immunologic and molecular genetic features of monogenic lupus in a large, ethnically diverse paediatric cohort and to evaluate genotype-phenotype correlations.
methodsWe conducted a retrospective multicentre study of 100 children with genetically confirmed monogenic lupus diagnosed before the age of 14 years. Patients were enrolled between 2000 and 2025 from centres in Saudi Arabia, Iran, Russia, Italy, Palestine and Oman. Demographic data, clinical manifestations, immunological findings, genetic results, treatments and outcomes were systematically analysed. Multivariable logistic regression was used to evaluate associations between specific genotypes and clinical phenotypes.
resultsThe median age at onset was 24 months, with 69% of patients carrying homozygous pathogenic mutations. The most frequently implicated genes were
conclusionThis large international cohort highlights the clinical and genetic heterogeneity of monogenic lupus.
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