Published in:
Open Access
01-11-2013 | Meeting abstract
PW02-037 - The Eurofever cohort of 136 patients with CAPS
Authors:
R Levy, L Gerard, J Kuemmerle-Deschner, H Lachmann, I Koné-Paut, L Cantarini, P Woo, A Naselli, B Bader-Meunier, F De Benedetti, SM Al-Mayouf, S Ozen, M Hofer, J Frenkel, C Modesto, I Nikishina, A Martini, N Ruperto, B Neven, M Gattorno
Published in:
Pediatric Rheumatology
|
Special Issue 1/2013
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Excerpt
Cryopyrin associated periodic syndromes (CAPS) is a spectrum of autoinflammatory syndromes including familial cold autoinflammatory syndrome, Muckle Wells syndrome and CINCA (chronic infantile neurologic articular syndrome). All phenotypes are associated with gain of function mutation in NLRP3 encoding cryopyrin, a protein involved in inflammasome and IL-1b processing. …