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Rheumatology Advance Access published online on August 18, 2006
Rheumatology, doi:10.1093/rheumatology/kel269
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© The Author 2006. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received April 26, 2006
Accepted July 4, 2006

Original Papers

Clinical and genetic characterization of Italian patients affected by CINCA syndrome

F. Caroli 1, A. Pontillo 2 *, A. D'Osualdo 1, L. Travan 2, I. Ceccherini 1, S. Crovella 2, M. Alessio 3, A. Stabile 4, M. Gattorno 5, A. Tommasini 2, A. Martini 5, and L. Lepore 2

1 Department of Molecular Genetics, IRCCS G. Gaslini, Genoa, Italy
2 Child Health Institute IRCCS Burlo Garofolo and Department of Reproduction and Development Sciences, University of Trieste, Trieste, Italy
3 Department of Pediatrics, Federico II Hospital, Naples, Italy
4 Department of Pediatrics Sciences, Università Cattolica Sacro Cuore, Rome, Italy
5 II Division of Pediatrics, University of Genova and IRCCS G. Gaslini, Genoa, Italy

* To whom correspondence should be addressed.
A. Pontillo, E-mail: pontillo{at}burlo.trieste.it


  Abstract

Objective. We report the experience of the Italian Registry of patients affected by chronic infantile neurological, cutaneous, articular (CINCA) syndrome. The clinical and genetic features of 12 unrelated Italian patients with CINCA syndrome are described, focusing on the possible influence of the presence of CIAS1/cryopyrin mutations on the phenotype of the disease and on its prognosis.

Methods. The clinical features of 12 Italian CINCA patients were evaluated. Genomic DNA of the patients was sequenced using specific primers for CIAS1 and ASC genes.

Results. Our patients shared typical CINCA characteristics and, sometimes, remarkable perinatal events, peculiar of CIAS1-mutated patients. Seven patients carried CIAS1 missense mutation, localized within the nucleotide binding domain of cryopyrin. Four previously described mutations and three new heterozygous CIAS1 missense mutations were identified. ASC gene, encoding for a direct interactor of cryopyrin, was not mutated in Italian CINCA patients. Finally, we reported the efficacy and safety of anti-IL1 therapy (Anakinra) in seven patients with a particularly severe CINCA phenotype.

Conclusion. Despite some common signs--used as syndrome hallmarks--we observed a high variability in symptoms, genetic results and outcomes in Italian CINCA patients. In contrast with other authors, we cannot find out any correlation between mutations in CIAS1 and CINCA severity, but we underlined the concomitance of perinatal events and mental retardation only in CIAS1 mutated subjects. Finally, we confirmed the efficacy of Anakinra treatment, both in CIAS1-mutated and non-mutated patients.

Keywords: Congenital autoinflammatory disease; ASC; CIAS1; Anakinra.
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