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Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

PW02-040 - Low-penetrance NLRP3 variants

Authors: T Endres, F Hofer, R Goldbach-Mansky, HM Hoffman, N Blank, K Krause, C Rietschel, G Horneff, P Lohse, J Kuemmerle-Deschner

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

Cryopyrin-associated periodic syndrome (CAPS) presents as rare, autosomal dominant disease spectrum, due to mutations in the NLRP3 gene which result in an excessive interleukin-1 (IL-1) release. …
Metadata
Title
PW02-040 - Low-penetrance NLRP3 variants
Authors
T Endres
F Hofer
R Goldbach-Mansky
HM Hoffman
N Blank
K Krause
C Rietschel
G Horneff
P Lohse
J Kuemmerle-Deschner
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-A181

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