Document Detail


The inherited autoinflammatory syndrome: a decade of discovery.
MedLine Citation:
PMID:  19768193     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Stephen Goldfinger
Related Documents :
20972063 - Cp6 anopthalmia and dysembryoplastic neuroepithelial tumours in a family with noonan sy...
21348593 - Preventing and managing bronchiolitis obliterans syndrome after allogeneic hematopoieti...
18922663 - Delayed recognition of guillain-barré syndrome in a child: a misleading respiratory dis...
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    
Affiliation:
Massachusetts General Hospital, 55 Fruit St., Boston, MA 02114, USA. sgoldfinger@partners.org
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Colchicine / therapeutic use
Cryopyrin-Associated Periodic Syndromes / genetics
Familial Mediterranean Fever / drug therapy,  genetics
Hereditary Autoinflammatory Diseases / genetics*
Humans
Mevalonate Kinase Deficiency / genetics
Pyoderma Gangrenosum / genetics
Receptors, Tumor Necrosis Factor / genetics
Syndrome
Chemical
Reg. No./Substance:
0/Receptors, Tumor Necrosis Factor; 64-86-8/Colchicine
Comments/Corrections

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


Previous Document:  Ventricular scars and ventricular tachycardia.
Next Document:  Ageing and the glomerular filtration rate: truths and consequences.