Hentgen Véronique, Despert Véronique, Leprêtre Anne-Claire, Cuisset Laurence, Chevrant-Breton Jacqueline, Jégo Patrick, Chalès Gérard, Gall Edouard Le, Delpech Marc, Grateau Gilles
Departement de medecine de l'Enfant et de l'Adolescent, Service de Dermatologie, Centre Hospitalier Regional et Universitaire de Rennes, Rennes, France.
J Rheumatol. 2005 Apr;32(4):747-51.
Among hereditary inflammatory disorders, Muckle-Wells syndrome, chronic infantile neurological cutaneous and articular syndrome (CINCA), and familial cold urticaria have recently been shown to be caused by dominantly inherited mutations in the CIAS1 gene. Reports suggest that these 3 diseases result from distinct missense mutations, with very few overlapping symptoms. We describe a French family presenting an intrafamilial overlapping clinical phenotype of CINCA and Muckle-Wells syndrome, caused by a mutation in CIAS1 gene. Clinical and genetic observations suggest that Muckle-Wells syndrome, CINCA, and familial cold urticaria are various phenotypic expressions of the same disease.
在遗传性炎症性疾病中，最近发现穆克-韦尔斯综合征、慢性婴儿神经皮肤和关节综合征（CINCA）以及家族性冷性荨麻疹是由CIAS1基因的显性遗传突变引起的。报告表明，这三种疾病是由不同的错义突变导致的，症状重叠极少。我们描述了一个法国家庭，其呈现出CINCA和穆克-韦尔斯综合征的家族内重叠临床表型，这是由CIAS1基因突变引起的。临床和遗传学观察表明，穆克-韦尔斯综合征、CINCA和家族性冷性荨麻疹是同一种疾病的不同表型表现。
