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.
Authors
- Teresa Giani (ORCID: https://orcid.org/0000-0001-9292-7601)
- Chiara Azzari (ORCID: https://orcid.org/0000-0001-7236-1655)
- I. Lemelle (ORCID: https://orcid.org/0000-0002-8761-2020)
- Jordi Antón (ORCID: https://orcid.org/0000-0002-8792-4219)
- Caroline Freychet
- Emily J. Liebling (ORCID: https://orcid.org/0000-0002-6719-1636)
- Donna M. McDonald‐McGinn (ORCID: https://orcid.org/0000-0003-4077-250X)
- Brigitte Bader‐Meunier (ORCID: https://orcid.org/0000-0001-8476-8196)
- Tilmann Kallinich (ORCID: https://orcid.org/0000-0003-2404-9397)
- Valentina Guarnieri (ORCID: https://orcid.org/0000-0002-5578-7002)
- Davide Montin (ORCID: https://orcid.org/0000-0001-8953-2182)
- T. Blaine Crowley (ORCID: https://orcid.org/0000-0002-3272-5458)
- Mercedes Serrano (ORCID: https://orcid.org/0000-0002-2056-2428)
- Liza McCann (ORCID: https://orcid.org/0000-0002-0372-5758)
- Gabriele Simonini
- Jean Louis Stéphan
- Marija Jelusic
Institutions
- 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)
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
Funders
- Ministero della Salute