PReS-FINAL-2200: Phenotype of V198M and Q703K NLRP3 variants

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

doi:10.1186/1546-0096-11-s2-p190

V Messia, F De Benedetti + Show 4 more

Open Access

PDF Available

https://doi.org/10.1186/1546-0096-11-s2-p190

Copy DOI

Export

Save

Cite

Abstract
Highlights/Summary
Full-Text PDF
Similar Papers

Abstract

Listen

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. 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.

Highlights

The term CAPS (Cryopyrin-Associated Periodic Syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/NLRP3
Clinical manifestations include urticaria-like rash, recurrent fever, arthralgia, conjunctivitis; chronic aseptic meningitis, cerebral atrophy and bone malformations in the severe cases
In the V198M cohort the mean age at disease onset was 5,85 ± 4,08 years

Summary

Introduction

PReS-FINAL-2200: Phenotype of V198M and Q703K NLRP3 variants Introduction The term CAPS (Cryopyrin-Associated Periodic Syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/NLRP3. 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.

Objectives

Results

Conclusion