Article

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

2026-02-01

Abstract excerpt

<h4>Objectives</h4> Research 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. <h4>Methods</h4> Cases were included with a record of inefficacy for methotrexate and ≥1 biologic drug or exposure to methotrexa...

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Literature Corpus work: 606e0e57-2496-5e1a-ba9b-7ec2f9972281
DOI: 10.64898/2026.01.30.26345195

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