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Whole exome sequencing of a cohort of patients with refractory JIA reveals rare genetic variants for paediatric monogenic diseases.

2026-02-01 rheumatology Title + abstract only
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ObjectivesResearch of refractory disease in juvenile idiopathic arthritis (JIA) is limited, and a potential genetic contribution has yet to be investigated. This study aimed to explore the presence of rare monogenic disease gene coding variants in a refractory JIA population. MethodsCases were included with a record of inefficacy for methotrexate and [≥]1 biologic drug or exposure to methotrexate and [≥]2 biologic drugs for any reason. Whole exome sequencing data were analysed using VarSe...

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