A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome

Eur J Pediatr. 2008 Feb;167(2):245-7. doi: 10.1007/s00431-007-0451-x. Epub 2007 Mar 2.

Authors

Hirokazu Kanegane¹, Toshiko Itazawa, Megumu Saito, Ryuta Nishikomori, Teruhiko Makino, Tadamichi Shimizu, Yuichi Adachi, Tatsutoshi Nakahata, Toshio Miyawaki

Affiliation

¹ Department of Pediatrics, Graduate School of Medicine, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan. kanegane@med.u-toyama.ac.jp

PMID: 17333269
DOI: 10.1007/s00431-007-0451-x

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Autoimmune Diseases / genetics*
Autoimmune Diseases / pathology
Carrier Proteins / genetics*
Cold Temperature / adverse effects
Female
Humans
Inflammation / genetics*
Inflammation / pathology
Japan
Mutation
NLR Family, Pyrin Domain-Containing 3 Protein
Skin / pathology
Syndrome
Urticaria / genetics*
Urticaria / pathology

Substances

Carrier Proteins
NLR Family, Pyrin Domain-Containing 3 Protein
NLRP3 protein, human