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Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

PW02-028 - Association of novel NLRP3 mutations with CAPS phenotype in Turkish patients

Authors: A Berdeli, S Nalbantoglu, D Tigli, I Demirel, M Atan, B Sozeri

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare, inherited, autoinflammatory diseases involved of Familial Cold Autoinflammatory Syndrome (FCAS),Muckle-Wells Syndrome (MWS) and Neonatal Onset Multisystem Inflammatory Disease (NOMID) (also called Chronic Infantile Neurologic Cutaneous Articular, or CINCA, Syndrome. The responsible gene NLRP3 (nucleotide-binding domain, leucine-rich family [NLR], pyrin domain containing, produces cryopyrin protein which participates in inflammasome complexes leading to production of interleukin-1β (IL-1β) and autoinflammation. …
Metadata
Title
PW02-028 - Association of novel NLRP3 mutations with CAPS phenotype in Turkish patients
Authors
A Berdeli
S Nalbantoglu
D Tigli
I Demirel
M Atan
B Sozeri
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-A169

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