Published in:
Open Access
01-11-2013 | Meeting abstract
PW03-007 - NLRP3 genetic variants in Schnitzler’s syndrome
Authors:
HD De Koning, J Schalkwijk, JW van der Meer, PL Zeeuwen, K Neveling, M van Gijn, A Simon
Published in:
Pediatric Rheumatology
|
Special Issue 1/2013
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Excerpt
Schnitzler’s syndrome (SchS) is an autoinflammatory disorder, characterized by chronic urticaria, fever, gammopathy and bone pain. The etiology is unknown, but interleukin-1 (IL-1) inhibition is very effective, like in the cryopyrin associated periodic syndrome (CAPS), that is caused by activating NLRP3 mutations. Previously, a V198M mutation in NLRP3 was reported in one patient with SchS, but this is a prevalent variation in the general healthy population. …