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Open Access 01-11-2013 | Meeting abstract

P02-031 - Phenotype of V198M and Q703K NLRP3 variants

Authors: V Messia, M Pardeo, R Nicolai, C Bracaglia, F De Benedetti, A Insalaco

Published in: Pediatric Rheumatology | Special Issue 1/2013

Excerpt

The term CAPS (cryopyrin-associated periodic syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/NLRP3. Affected individuals may present three different phenotypes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and CINCA syndrome, the most severe form of the clinical spectrum. Clinical manifestations include urticaria-like rash, recurrent fever, arthralgia, conjunctivitis; chronic aseptic meningitis, cerebral atrophy and bone malformations in the severe cases. …

Title: P02-031 - Phenotype of V198M and Q703K NLRP3 variants
Authors: V Messia
M Pardeo
R Nicolai
C Bracaglia
F De Benedetti
A Insalaco
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-A138

At a glance: The STEP trials

Springer Medicine

P02-031 - Phenotype of V198M and Q703K NLRP3 variants

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

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