Skip Navigation


Rheumatology Advance Access originally published online on January 3, 2008
Rheumatology 2008 47(3):309-310; doi:10.1093/rheumatology/kem318
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow All Versions of this Article:
47/3/309    most recent
kem318v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Maksimovic, L.
Right arrow Articles by Fain, O.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Maksimovic, L.
Right arrow Articles by Fain, O.
Related Collections
Right arrow Immunogenetics
Right arrow Pharmacology
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© Published by Oxford University Press on behalf of the British Society for Rheumatology 2008.

New CIAS1 mutation and anakinra efficacy in overlapping of Muckle–Wells and familial cold autoinflammatory syndromes

L. Maksimovic1, J. Stirnemann1, F. Caux1,2, N. Ravet3, S. Rouaghe1, L. Cuisset4, E. Letellier1, G. Grateau3, A.-S. Morin1 and O. Fain1

1Service de Médecine Interne, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, Université Paris 13, 2Service de Dermatologie, Hôpital Avicenne, Assistance Publique-Hôpitaux de Paris, Université Paris 13, 3Service de Médecine Interne, Hôpital Tenon, Assistance Publique-Hôpitaux de Paris, Université Paris 6 and 4Laboratoire de Biochimie Génétique, Hôpital Cochin, Université Paris 5, Paris, France.

Correspondence to: N. Ravet, Service de Médecine Interne, Hôpital Tenon, 4 Rue de la Chine, 75020 Paris, France. E-mail: ravetnathalie73{at}yahoo.fr


  Abstract

Objectives. Muckle–Wells syndrome (MWS) and familial cold autoinflammatory syndrome (FCAS) are rare periodic fevers associated with CIAS1 mutations. A third entity, the chronic infantile neurological, cutaneous, articular (CINCA) syndrome was also recently associated with mutation in the same gene. A phenotypic and genotypic continuum seems to exist from the most benign (FCAS) to the most severe forms (CINCA). Although a CIAS1 mutation can be associated with two different phenotypes.

Methods. We report a family of three patients exhibiting the MWS and FCAS phenotypes. These phenotypes were associated with a novel missense mutation in CIAS1.

Results. Anakinra controlled inflammatory flares in the three patients.

Conclusions. FCAS, MWS and CINCA could be different phenotype expressions of the same disease.

KEY WORDS: Muckle–Wells syndrome (MWS), Familial cold autoinflammatory syndrome (FCAS), CIAS1, Anakinra, Cryopyrin-associated periodic syndromes (CAPS)

Submitted 19 June 2007; revised version accepted 31 October 2007.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?




Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.