• L Maksimovic, J Stirnemann, F Caux, N Ravet, S Rouaghe, L Cuisset, E Letellier, G Grateau, A-S Morin, and O Fain.
• Service de Médecine Interne, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, Université Paris 13, Paris, France.
• Rheumatology (Oxford). 2008 Mar 1; 47 (3): 309-10.

ObjectivesMuckle-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.MethodsWe report a family of three patients exhibiting the MWS and FCAS phenotypes. These phenotypes were associated with a novel missense mutation in CIAS1.ResultsAnakinra controlled inflammatory flares in the three patients.ConclusionsFCAS, MWS and CINCA could be different phenotype expressions of the same disease.

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