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Rheumatology (Oxford). 2008 Mar;47(3):309-10. doi: 10.1093/rheumatology/kem318. Epub 2008 Jan 3.

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

Author information

1
Service de Médecine Interne, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, Université Paris 13, Paris, France.

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.

PMID:
18174231
DOI:
10.1093/rheumatology/kem318
[Indexed for MEDLINE]
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