Characterization of NLRP3 variants in Japanese cryopyrin-associated periodic syndrome patients.
J Clin Immunol
; 32(2): 221-9, 2012 Apr.
Article
em En
| MEDLINE
| ID: mdl-22193915
ABSTRACT
The etiology of cryopyrin-associated periodic syndrome (CAPS) is caused by germline gene mutations in NOD-like receptor family, pryin domain containing 3 (NLRP3)/cold-induced autoinflammatory syndrome 1 (CIAS1). CAPS includes diseases with various severities. The aim of this study was to characterize patients according to the disease severity of CAPS. Five Japanese patients with four kinds of gene variations in NLRP3 were found and diagnosed as CAPS or juvenile idiopathic arthritis. Two mutations in NLRP3, Y563N and E688K, found in CAPS patients exhibit significant positive activities in the nuclear factor-κB reporter gene assay. Increased serum interleukin (IL)-18 levels were only observed in severe cases of CAPS. In mild cases of CAPS, the serum IL-18 levels were not increased, although lipopolysaccharide- or hypothermia-enhanced IL-1ß and IL-18 production levels by their peripheral blood mononuclear cells were detectable. This series of case reports suggests that a combination of in vitro assays could be a useful tool for the diagnosis and characterization of the disease severity of CAPS.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
/
Proteínas de Transporte
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Síndromes Periódicas Associadas à Criopirina
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
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Infant
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Male
/
Middle aged
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Clin Immunol
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Japão