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

@article{Ohnishi2011CharacterizationON,
  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},
  year={2011},
  volume={32},
  pages={221-229}
}
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

From This Paper

Figures, tables, and topics from this paper.

Citations

Publications citing this paper.
Showing 1-8 of 8 extracted citations

Pediatric allergy and immunology in Japan.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology • 2013
View 1 Excerpt

References

Publications referenced by this paper.
Showing 1-10 of 25 references

High incidence of NLRP3 somatic mosaicism in chronic infantile neurological cutaneous and articular syndrome patients

N Tanaka, K Izawa, +3 authors O Ohara
J Clin Immunol • 2012
View 1 Excerpt

Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder

I Jeru, S Marlin, +3 authors P Duquesnoy
Arthritis Rheum • 2010
View 1 Excerpt

Hypothermia augments NF-kappaB activity and the production of IL-12 and IFN-gamma.

Allergology international : official journal of the Japanese Society of Allergology • 2008
View 1 Excerpt

Similar Papers

Loading similar papers…