Publications by authors named "Maria Cristina Arnal"
Arthritis Rheum
June 2009
Article Synopsis
- The study investigates the phenotype characteristics of pediatric granulomatous arthritis (PGA) patients with NOD2 gene mutations, using data from two cohorts: the International PGA Registry and a Spanish cohort.
- Forty-five patients were analyzed, revealing a range of mutations with the most common being R334W and R334Q, alongside typical symptoms like dermatitis, uveitis, and arthritis, as well as various atypical manifestations in some cases.
- The findings emphasize that NOD2-associated PGA can affect multiple systems in the body, suggesting that healthcare providers need to be aware of its potential systemic complications to prevent long-term health issues.
