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The PYRIN Connection

Published:2004-09-06 Issue:5 Volume:200 Page:551-558
ISSN:1540-9538
Container-title:Journal of Experimental Medicine
language:en
Short-container-title:

Author:

Stehlik Christian¹,Reed John C.²

Affiliation:

1. Mary Babb Randolph Cancer Center and Department of Microbiology, Immunology and Cell Biology, West Virginia University School of Medicine, 1814 MBRCC, Morgantown, WV 26506

2. The Burnham Institute, La Jolla, CA 92037

Abstract

Periodic fever syndromes (PFSs) comprise a subset of the hereditary autoinflammatory disorders that are defined by recurrent self-resolving attacks of systemic inflammatory reactions in the absence of infection or autoimmunity. Recent advances have led to the discovery that members of a new family of genes, the PYRIN family, account for several hereditary PFSs. Here we discuss new insights into the function of PYRIN proteins and the molecular basis of PFSs.

Publisher

Rockefeller University Press

Subject

Immunology,Immunology and Allergy

Link

http://rupress.org/jem/article-pdf/200/5/551/1151015/jem2005551.pdf

Reference45 articles.

1. A candidate gene for familial Mediterranean fever

2. Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

3. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway

4. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder

5. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome

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