Format

Send to

Choose Destination
Expert Rev Clin Immunol. 2015;11(7):827-35. doi: 10.1586/1744666X.2015.1047765. Epub 2015 May 15.

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

Author information

1
Laboratoire de génétique des maladies rares et auto-inflammatoires, CHRU, Montpellier, France.

Abstract

Cryopyrin-associated periodic syndrome are rare autosomal dominantly inherited diseases. They include three overlapping phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous articular syndrome/neonatal onset multisystem autoinflammatory syndrome (NOMID/CINCA). Recurrent fevers, joint pain, and urticarial skin rash are the main clinical features of these conditions. Renal amyloidosis and sensorineural complications may occur. Gain-of-function mutations in NLRP3 gene are responsible for the overactivation of the NLRP3 inflammasome, a multimolecular complex involved in the inflammatory process. Missense mutations are almost always encountered, particularly in exon 3, which encodes the nucleotide-binding domain. Mosaicism is not rare, especially in CINCA/NOMID. Next-generation sequencing will grant access to new insights about NLRP3 implication in oligogenic and multifactorial diseases.

KEYWORDS:

CAPS; CINCA; FCAS; MWS; NLRP3; autoinflammatory syndrome; cryopyrin; inflammasome; mosaicism

PMID:
25979514
DOI:
10.1586/1744666X.2015.1047765
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Taylor & Francis
Loading ...
Support Center