Characterization of NLRP3 Variants in Japanese Cryopyrin-Associated Periodic Syndrome Patients

  title={Characterization of NLRP3 Variants in Japanese Cryopyrin-Associated Periodic Syndrome Patients},
  author={Hidenori Ohnishi and Takahide Teramoto and Hiroaki Iwata and Zenichiro Kato and Takeshi Kimura and Kazuo Kubota and Ryuta Nishikomori and Hideo Kaneko and Mariko Seishima and Naomi Kondo},
  journal={Journal of Clinical Immunology},
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… CONTINUE READING

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