A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome.
Kanegane
Hirokazu
H
Department of Pediatrics, Graduate School of Medicine, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan. kanegane@med.u-toyama.ac.jp
Itazawa
Toshiko
T
Saito
Megumu
M
Nishikomori
Ryuta
R
Makino
Teruhiko
T
Shimizu
Tadamichi
T
Adachi
Yuichi
Y
Nakahata
Tatsutoshi
T
Miyawaki
Toshio
T
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
D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human