title: Cryopyrin-associated periodic syndrome: a case report and review of the Japanese literature.
abstract: Cryopyrin-associated periodic syndrome is an autoinflammatory syndrome caused by mutations of the CIAS1 gene (currently named NLRP3), and is characterized by periodic attacks of an urticaria-like rash, fever, head-ache, conjunctivitis and arthralgia. We report here a case of a 1-year-old boy with cryopyrin-associated periodic syndrome, which manifested as a recurrent skin rash in the postnatal period. Genetic analysis revealed a missense mutation of the CIAS1 gene in the mother and infant.
authors.affiliation: Department of Dermatology, Gunma University Graduate School of Medicine, 3-39-22 Showa-machi, Maebashi, Gunma 371-8511, Japan. kumako@ac.auone-net.jp
authors.forename: Kumi
authors.initials: K
authors.lastname: Aoyama
authors.forename: Hiroo
authors.initials: H
authors.lastname: Amano
authors.forename: Yuki
authors.initials: Y
authors.lastname: Takaoka
authors.forename: Ryuta
authors.initials: R
authors.lastname: Nishikomori
authors.forename: Osamu
authors.initials: O
authors.lastname: Ishikawa
mesh_terms: D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D056587:Cryopyrin-Associated Periodic Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D004252:DNA Mutational Analysis; D005076:Exanthema / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007564:Japan; D008297:Male; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D010641:Phenotype; D012008:Recurrence; D012867:Skin / Q000276:immunology / Q000473:pathology
chemical_list: D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human