Clin Exp Dermatol. 2008 Jan;33(1):1-9. Epub 2007 Oct 9.

Cryopyrin-associated periodic syndromes and autoinflammation.

Source

Department of Dermatology, University of California, San Francisco, CA, USA.

Abstract

Autoinflammatory syndromes are a distinct class of inherited diseases of cytokine dysregulation with important cutaneous features. Several disorders, including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and neonatal onset multisystem inflammatory disorder (NOMID), are associated with mutations in a common gene, CIAS-1. These disorders are now believed to represent related conditions along a spectrum of disease severity, in which FCAS is the mildest and NOMID is the most severe phenotype. Patients typically present with lifelong atypical urticaria with systemic symptoms, with potential for developing end-organ damage due to chronic inflammation. Advances in the understanding of the genetic basis of these syndromes have also revealed cytokine signalling molecules that are critical to normal regulation of inflammatory pathways. The dramatic response of these syndromes to anakinra, an interleukin (IL)-1 antagonist, highlights the important role of IL-1 cytokine signalling in the pathogenesis of this rare but fascinating class of diseases.

PMID:: 17927785; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. [Arthritis Rheum. 2004]
Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra.
Hawkins PN, Lachmann HJ, Aganna E, McDermott MF. Arthritis Rheum. 2004 Feb; 50(2):607-12.
New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. [Rheumatology (Oxford). 2008]
New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes.
Maksimovic L, Stirnemann J, Caux F, Ravet N, Rouaghe S, Cuisset L, Letellier E, Grateau G, Morin AS, Fain O. Rheumatology (Oxford). 2008 Mar; 47(3):309-10. Epub 2008 Jan 3.
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. [Arthritis Rheum. 2002]
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.
Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, Stein L, Russo R, Goldsmith D, Dent P, et al. Arthritis Rheum. 2002 Dec; 46(12):3340-8.
Review Autoinflammatory diseases: clinical and genetic advances. [Arch Dermatol. 2008]
Review Autoinflammatory diseases: clinical and genetic advances.
Farasat S, Aksentijevich I, Toro JR. Arch Dermatol. 2008 Mar; 144(3):392-402.
Review Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. [Curr Rheumatol Rep. 2011]
Review Current status of understanding the pathogenesis and management of patients with NOMID/CINCA.
Goldbach-Mansky R. Curr Rheumatol Rep. 2011 Apr; 13(2):123-31.

See reviews... See all...

Cited by 5 PubMed Central articles

Review Genetic and molecular basis of inflammasome-mediated disease. [J Biol Chem. 2011]
Review Genetic and molecular basis of inflammasome-mediated disease.
Hoffman HM, Brydges SD. J Biol Chem. 2011 Apr 1; 286(13):10889-96. Epub 2011 Feb 4.
Review Inflammasomes and autoimmunity. [Trends Mol Med. 2011]
Review Inflammasomes and autoimmunity.
Shaw PJ, McDermott MF, Kanneganti TD. Trends Mol Med. 2011 Feb; 17(2):57-64. Epub 2010 Dec 14.
Cryopyrin-associated periodic syndrome: an update on diagnosis and treatment response. [Curr Allergy Asthma Rep. 2011]
Cryopyrin-associated periodic syndrome: an update on diagnosis and treatment response.
Yu JR, Leslie KS. Curr Allergy Asthma Rep. 2011 Feb; 11(1):12-20.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Cryopyrin-associated periodic syndromes and autoinflammation.
Cryopyrin-associated periodic syndromes and autoinflammation.
Clin Exp Dermatol. 2008 Jan ;33(1):1-9. Epub 2007 Oct 9 .

PubMed
A survey of program directors: trends, challenges, and mentoring in prosthodonti...
A survey of program directors: trends, challenges, and mentoring in prosthodontics. Part 1.
J Prosthodont. 2008 Jan ;17(1):69-75. Epub 2007 Oct 8 .

PubMed
A similarity-based data-fusion approach to the visual characterization and compa...
A similarity-based data-fusion approach to the visual characterization and comparison of compound databases.
Chem Biol Drug Des. 2007 Nov ;70(5):393-412. Epub 2007 Oct 10 .

PubMed
Genome-wide analysis reveals differences in brain gene expression patterns assoc...
Genome-wide analysis reveals differences in brain gene expression patterns associated with caste and reproductive status in honey bees (Apis mellifera).
Mol Ecol. 2007 Nov ;16(22):4837-48. Epub 2007 Oct 9 .

PubMed
Efficacy of folic acid in children with migraine, hyperhomocysteinemia and MTHFR...
Efficacy of folic acid in children with migraine, hyperhomocysteinemia and MTHFR polymorphisms.
Headache. 2007 Oct ;47(9):1342-4.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Cryopyrin-associated periodic syndromes and autoinflammation.

Source

Abstract

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Cited by 5 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information