Article
Genetic and phenotypic landscape of monogenic lupus: insights from an international cohort.
Lupus science & medicine - 18 Mar 2026
Al-Mayouf Sulaiman M, Ziaee Vahid, Movahedi Nasim, Kostik Mikhail, Alhuthil Raghad, Alsonbul Abdullah, Asiri Abdulrahman, Volpi Stefano, Gattorno Marco, Majeed Mahmoud, Al Abrawi Safiya, Yateem Mada, Alharthi Ashwag, Al-Saoud Sima, Alazami Anas M, AlSaleem Alhanouf
Abstract excerpt
OBJECTIVE: To characterise the clinical, immunologic and molecular genetic features of monogenic lupus in a large, ethnically diverse paediatric cohort and to evaluate genotype-phenotype correlations. METHODS: We 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...
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