Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome.
J Rheumatol
; 32(4): 747-51, 2005 Apr.
Article
em En
| MEDLINE
| ID: mdl-15801036
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Artrite
/
Urticária
/
Proteínas de Transporte
/
Saúde da Família
/
Mutação em Linhagem Germinativa
/
Inflamação
Limite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
J Rheumatol
Ano de publicação:
2005
Tipo de documento:
Article