ArticleOrphanet journal of rare diseases2025
Chronic inflammatory arthritis in 22q11.2 deletion (DiGeorge) syndrome: a multicentric study.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- The Intertwining Between Arthritis and Inborn Errors of Immunity.Journal of clinical medicine · 2026Review
- Juvenile idiopathic arthritis in DiGeorge syndrome: a case report and literature review.Frontiers in immunology · 2026Review
- Infantile 22q11.2 deletion syndrome with secondary monogenic variants following inconclusive whole exome sequencing: a case report.Frontiers in pediatrics · 2026Article
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17 authors.
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Abstract
background22q11 deletion syndrome (22q11DS) is a genetic disorder caused by a deletion at chromosome 22q11.2. Chronic arthritis may be occasionally observed in these, if this manifestion represents a concomitant association of two diseases or a rare complication of Di George syndrome is still a debate. This study aims to describe a retrospective, multicenter analysis of patients with 22q11DS, who developed chronic inflammatory arthritis, focusing on clinical presentation, diagnosis, and management.
methodsAn e-mail survey was distributed to pediatric centers, identifying patients diagnoses with both 22q11DS and chronic arthritis from 1992 to 2024. The clinical course was documented through medical record review.
resultsA total of 30 patients were identified with a female predominance (20 cases). The median age at 22q11DS diagnosis was 12 months, and 3 years at arthritis onset. Polyarticular involvement was observed in 50.0% of patients, and the median number of affected joints at onset among all patients was 4.5 (range 1-25). Only one child developed uveitis. Erythrocyte sedimentation rate was elevated in 72.0% of tested patients, and C-reactive protein in 83.3%. Antinuclear antibodies was negative in 23.3% of patients, while rheumatoid factor (RF) and cyclic citrullinated peptide (CCP) antibodies were consistently negative. Treatment included systemic glucocorticoids (53.3%), methotrexate (66.6%), and biologic agents (56.7%). Infections were generally mild, primarily affecting the respiratory tract. At last follow-up, arthritis persisted active in 53.3% of cases, with 78.6% of those in remission still on medication.
conclusionsArthritis in 22q11DS appears to be a distinct clinical entity characterized by an aggressive phenotype and a severe, prolonged course, typically lacking CCP and RF antibodies and rarely associated with uveitis. These features suggest a distinct clinical entity, diverging from classical juvenile idiopathic arthritis.
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