Chronic inflammatory arthritis in 22q11.2 deletion (DiGeorge) syndrome: a multicentric study

Arthritis 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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Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2025-11-24
DOI
https://doi.org/10.1186/s13023-025-04088-2
Primary Topic
Congenital heart defects research
Type
article
Field-Weighted Citation Impact
0.00

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article

Chronic inflammatory arthritis in 22q11.2 deletion (DiGeorge) syndrome: a multicentric study

Teresa Giani, Chiara Azzari, I. Lemelle, Jordi Antón et al.
Orphanet Journal of Rare Diseases
Congenital heart defects research
article

Chronic inflammatory arthritis in 22q11.2 deletion (DiGeorge) syndrome: a multicentric study

Teresa Giani, Chiara Azzari, I. Lemelle, Jordi Antón, Caroline Freychet, Emily J. Liebling, Donna M. McDonald‐McGinn, Brigitte Bader‐Meunier, Tilmann Kallinich, Valentina Guarnieri, Davide Montin, T. Blaine Crowley, Mercedes Serrano, Liza McCann, Gabriele Simonini, Jean Louis Stéphan, Marija Jelusic
article en

Abstract

Arthritis 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.

Orphanet Journal of Rare DiseasesVol. 20(1)
Hôpital Necker-Enfants Malades (FR), Hospital Sant Joan de Déu Barcelona (ES), Children's Hospital of Philadelphia (US), University Hospital Centre Zagreb (HR), Inserm (FR), Institut Necker Enfants Malades (FR), Alder Hey Children's NHS Foundation Trust (GB), Assistance Publique – Hôpitaux de Paris (FR), Centre Hospitalier Régional et Universitaire de Nancy (FR), Institute Cancer De La Loire Lucien Neuwirth (FR), Meyer Children's Hospital (IT), Ospedale Regina Margherita (IT), Istituti di Ricovero e Cura a Carattere Scientifico (IT), Institut des Maladies Génétiques Imagine (FR), Universitat de Barcelona (ES), Charité - Universitätsmedizin Berlin (DE)
Ministero della Salute
Openalex Percentile: Top 68%
Congenital heart defects research
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