Abstract
Abstract
Objectives
With advances in genetic testing, monogenic lupus is increasingly recognized, yet disease-specific classification criteria are lacking. We compared all three classification criteria sets in the same monogenic lupus cohort and, for the first time, evaluated their performance across distinct genetic pathways.
Methods
This national multicenter study included 88 genetically confirmed monogenic lupus patients from 22 pediatric rheumatology centers across Türkiye. Fulfilment of the ACR-1997, SLICC-2012, and EULAR/ACR-2019 criteria and pathway-based differences in classification performance were assessed.
Results
Overall, 74% (n = 65) fulfilled ACR-1997, 70.5% (n = 62) SLICC-2012 and EULAR/ACR-2019 criteria, and 62.5% (n = 55) met all three, whereas 17% (n = 15) met none. Agreement was substantial (κ = 0.63–0.73), with no significant differences between criteria (p > 0.05). Classification performance differed significantly across genetic pathways (p
Conclusions
One-third of genetically confirmed monogenic lupus patients remained unclassified, particularly those with interferon-related and nucleic acid metabolism defects, highlighting pathway-dependent limitations of current classification criteria.