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

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

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

L Maksimovic,J Stirnemann,F Caux,N Ravet,S Rouaghe,L Cuisset,E Letellier,G Grateau,A-S Morin,O Fain,

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.

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

L Maksimovic,J Stirnemann,F Caux,N Ravet,S Rouaghe,L Cuisset,E Letellier,G Grateau,AS Morin,O Fain,

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

PUBLICATION TYPE: Journal Article

Journal: Rheumatology (Oxford, England)

VOLUME: 47

Page Numbers: 309-10

Journal Abbreviation: Rheumatology (Oxford)

ISSN: 1462-0332

DAY: 3

MONTH: 01

YEAR: 2008

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

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LANGUAGE: eng

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

Country: England

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MEDLINETA: Rheumatology (Oxford)

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