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

被引:48
作者
Maksimovic, L. [1 ]
Stirnemann, J. [1 ]
Caux, F. [1 ,2 ]
Ravet, N. [3 ]
Rouaghe, S. [1 ]
Cuisset, L. [4 ]
Letellier, E. [1 ]
Grateau, G. [3 ]
Morin, A. -S.
Fain, O. [1 ]
机构
[1] Univ Paris 13, Assistance Publ Hop Paris, Hop Jean Verdier, Serv Med Interne, Paris, France
[2] Univ Paris 13, Assistance Publ Hop Paris, Hop Avicenne, Serv Dermatol, Paris, France
[3] Univ Paris 06, Assistance Publ Hop Paris, Hop Tenon, Serv Med Interne, F-75020 Paris, France
[4] Univ Paris 05, Hop Cochin, Biochim Genet Lab, Paris, France
关键词
Muckle-Wells syndrome (MWS); familial cold autoinflammatory syndrome (FCAS); CIAS1; anakinra; Cryopyrin-associated periodic syndromes (CAPS);
D O I
10.1093/rheumatology/kem318
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:309 / 310
页数:2
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