Document Detail

The inherited autoinflammatory syndrome: a decade of discovery.
MedLine Citation:
PMID:  19768193     Owner:  NLM     Status:  MEDLINE    
The hereditary autoinflammatory diseases arise from mutations of genes regulating the innate immune system. These rare disorders are well characterized, both clinically and in terms of their molecular pathogenesis. The recurrent attacks of febrile polyserositis of Familial Mediterranean Fever (FMF) are due to defective pyrin, a protein that down-regulates inflammation. The Hyperimmunoglobulinemia D Syndrome (HIDS), which mimics FMF, results from a genetically conferred deficiency of mevalonate kinase. TRAPS (TNF Receptor Associated Periodic Syndrome), formerly known as Familial Hibernian Fever, is caused by a defective membrane receptor for TNF. Three other hereditary disorders which overlap in their clinical expression - Familial Cold Autoinflammatory Syndrome, the Muckle Wells syndrome, and Neonatal Onset Multisystem Inflamatory Disease (NOMID) - are a consequence of gain-of-function mutations of the gene encoding cryopyrin, the scaffolding protein of the inflammasome. The PAPA syndrome (Pyogenic Arthritis, Pyoderma gangrenosum, Acne) results from mutations of a gene that increases the binding of its product (PSPSTPIP1) to pyrin, thereby blunting the inhibitory effect of pyrin on inflammasome activation.
Stephen Goldfinger
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Transactions of the American Clinical and Climatological Association     Volume:  120     ISSN:  0065-7778     ISO Abbreviation:  Trans. Am. Clin. Climatol. Assoc.     Publication Date:  2009  
Date Detail:
Created Date:  2009-09-21     Completed Date:  2009-12-29     Revised Date:  2013-05-31    
Medline Journal Info:
Nlm Unique ID:  7507559     Medline TA:  Trans Am Clin Climatol Assoc     Country:  United States    
Other Details:
Languages:  eng     Pagination:  413-8     Citation Subset:  IM    
Massachusetts General Hospital, 55 Fruit St., Boston, MA 02114, USA.
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MeSH Terms
Colchicine / therapeutic use
Cryopyrin-Associated Periodic Syndromes / genetics
Familial Mediterranean Fever / drug therapy,  genetics
Hereditary Autoinflammatory Diseases / genetics*
Mevalonate Kinase Deficiency / genetics
Pyoderma Gangrenosum / genetics
Receptors, Tumor Necrosis Factor / genetics
Reg. No./Substance:
0/Receptors, Tumor Necrosis Factor; 64-86-8/Colchicine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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