title: A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan. kanegane@med.u-toyama.ac.jp
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.forename: Toshiko
authors.initials: T
authors.lastname: Itazawa
authors.forename: Megumu
authors.initials: M
authors.lastname: Saito
authors.forename: Ryuta
authors.initials: R
authors.lastname: Nishikomori
authors.forename: Teruhiko
authors.initials: T
authors.lastname: Makino
authors.forename: Tadamichi
authors.initials: T
authors.lastname: Shimizu
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Adachi
authors.forename: Tatsutoshi
authors.initials: T
authors.lastname: Nakahata
authors.forename: Toshio
authors.initials: T
authors.lastname: Miyawaki
mesh_terms: D000293:Adolescent; D001327:Autoimmune Diseases / Q000235:genetics* / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics*; D003080:Cold Temperature / Q000009:adverse effects; D005260:Female; D006801:Humans; D007249:Inflammation / Q000235:genetics* / Q000473:pathology; D007564:Japan; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D012867:Skin / Q000473:pathology; D013577:Syndrome; D014581:Urticaria / Q000235:genetics* / Q000473:pathology
chemical_list: D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human