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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

P02-032 - CAPS: a novel mutation and an unusual phenotype

Authors: A Insalaco, PS Buonuomo, C Bracaglia, M Pardeo, I Ceccherini, R Nicolai, F De Benedetti

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory syndrome caused by heterozygous mutations of CIAS1/NLRP3 gene. Affected patients may present with three different phenotypes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and CINCA syndrome. Common symptoms include sporadic or cold-induced non pruritic urticarial rash and fever. Severe cases suffer from deafness, meningitis, articular contracture and secondary amyloidosis. …
Literature
1.
ter Haar Nienke, Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever/Eurotraps Projects: Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis. 2012, Online First published on as 10.1136/annrheumdis-2011-201268
2.
Kone-Paut I, Piram M: Targeting interleukin-1β in CAPS (cryopyrin-associated periodic) syndromes: What did we learn?. Autoimmunity Reviews. 2012, 12 (1): 77-80.CrossRefPubMed
Metadata
Title
P02-032 - CAPS: a novel mutation and an unusual phenotype
Authors
A Insalaco
PS Buonuomo
C Bracaglia
M Pardeo
I Ceccherini
R Nicolai
F De Benedetti
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-A139

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