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Current Allergy and Asthma Reports
Published in: Current Allergy and Asthma Reports 1/2011

Open Access 01-02-2011

Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response

Authors: Justin R. Yu, Kieron S. Leslie

Published in: Current Allergy and Asthma Reports | Issue 1/2011

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Abstract

Cryopyrin-associated periodic syndrome (CAPS) is a rare hereditary inflammatory disorder encompassing a continuum of three phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and neonatal-onset multisystem inflammatory disease. Distinguishing features include cutaneous, neurological, ophthalmologic, and rheumatologic manifestations. CAPS results from a gain-of-function mutation of the NLRP3 gene coding for cryopyrin, which forms intracellular protein complexes known as inflammasomes. Defects of the inflammasomes lead to overproduction of interleukin-1, resulting in inflammatory symptoms seen in CAPS. Diagnosis is often delayed and requires a thorough review of clinical symptoms. Remarkable advances in our understanding of the genetics and the molecular pathway that is responsible for the clinical phenotype of CAPS has led to the development of effective treatments. It also has become clear that the NLRP3 inflammasome plays a critical role in innate immune defense and therefore has wider implications for other inflammatory disease states.
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Metadata
Title
Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response
Authors
Justin R. Yu
Kieron S. Leslie
Publication date
01-02-2011
Publisher
Current Science Inc.
Published in
Current Allergy and Asthma Reports / Issue 1/2011
Print ISSN: 1529-7322
Electronic ISSN: 1534-6315
DOI
https://doi.org/10.1007/s11882-010-0160-9

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