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Published in: Pediatric Rheumatology 1/2013

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. …
Metadata
Title
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
Publication date
01-11-2013
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-11-S1-A233

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