Maksimovic L, Stirnemann J, Caux F, Ravet N, Rouaghe S, Cuisset L, Letellier E, Grateau G, Morin A-S, Fain O
Service de Médecine Interne, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, Université Paris 13, Paris, France.
Rheumatology (Oxford). 2008 Mar;47(3):309-10. doi: 10.1093/rheumatology/kem318. Epub 2008 Jan 3.
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.
We report a family of three patients exhibiting the MWS and FCAS phenotypes. These phenotypes were associated with a novel missense mutation in CIAS1.
Anakinra controlled inflammatory flares in the three patients.
FCAS, MWS and CINCA could be different phenotype expressions of the same disease.
穆克-韦尔斯综合征（MWS）和家族性寒冷性自身炎症综合征（FCAS）是与CIAS1基因突变相关的罕见周期性发热疾病。最近，第三种疾病，即慢性婴儿神经皮肤关节综合征（CINCA）也被发现与同一基因的突变有关。从最轻微的形式（FCAS）到最严重的形式（CINCA），似乎存在着一种表型和基因型的连续体。尽管CIAS1基因突变可能与两种不同的表型相关。
我们报告了一个有三名患者的家族，他们表现出MWS和FCAS表型。这些表型与CIAS1基因中的一种新的错义突变有关。
阿那白滞素控制了这三名患者的炎症发作。
FCAS、MWS和CINCA可能是同一种疾病的不同表型表达。
