Molecular diagnostic yield for Blau syndrome in previously diagnosed juvenile idiopathic arthritis with uveitis or cutaneous lesions
Authors' conclusion
Targeted NOD2 sequencing established the molecular diagnosis of Blau syndrome in nearly one-fifth of these cases and provided clinically relevant information for patient-care decisions.
Study context
- Population
- Previously diagnosed juvenile idiopathic arthritis (JIA) with symptoms and signs suspected of Blau syndrome, including at least uveitis or cutaneous lesions in addition to arthritis (median age 5 years; female 62.6%), 1 May 2008 to 1 June 2021
- Participants
- 123 participants
- Outcome
- Molecular diagnostic yield of targeted NOD2 sequencing for Blau syndrome (pathogenic or likely pathogenic variants)
Methodological detailstargeted next-generation sequencing of NOD2
- Targeted next-generation sequencing of NOD2
Performance
As reported in the abstract
Positive molecular diagnosis of Blau syndrome
Diagnostic yield of targeted NOD2 sequencing
21.1%
95% CI 14.9%, 29.2%
Further findings
Changes in clinical management and treatment among those with a molecular diagnosis
- Changes in clinical management and treatment
- 38.5%
Predictors of a higher diagnostic yield
- Predictors associated with a higher diagnostic yield
- 9
Original publication
Molecular diagnostic yield for Blau syndrome in previously diagnosed juvenile idiopathic arthritis with uveitis or cutaneous lesions. Rheumatology (Oxford). Published 6 November 2023. doi:10.
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