Document Detail

Autoinflammatory syndromes with a dermatological perspective.
MedLine Citation:
PMID:  17727363     Owner:  NLM     Status:  MEDLINE    
The term autoinflammatory syndromes describes a distinct group of systemic inflammatory diseases apparently different from infectious, autoimmune, allergic and immunodeficient ones. Originally, it was almost synonymous with clinically defined hereditary periodic fever syndromes, including familial Mediterranean fever, hyper immunoglobulin D syndrome with periodic fever and tumor necrosis factor receptor-associated periodic syndrome. Similar but distinct periodic fever syndromes accompanied by urticarial rash, familial cold autoinflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological cutaneous articular syndrome, have all been reportedly associated with CIAS1 mutations and are collectively called cryopyrin-associated periodic syndromes. Consequently, the concept of autoinflammatory syndromes has been spread to contain other systemic inflammatory diseases: rare hereditary diseases with or without periodic fevers, such as pyogenic sterile arthritis, pyoderma gangrenosum and acne syndrome, Blau syndrome and chronic recurrent multifocal osteomyelitis, and the more common collagen disease-like diseases, such as Behcet's disease, Crohn's disease, sarcoidosis and psoriatic arthritis. These diseases are all caused by or associated with mutations of genes regulating innate immunity and have common clinical features accompanied with activation of neutrophils and/or monocytes/macrophages. In this review, major autoinflammatory syndromes are summarized and the pathophysiology of related skin disorders is discussed in association with dysregulated innate immune signaling.
Nobuo Kanazawa; Fukumi Furukawa
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  The Journal of dermatology     Volume:  34     ISSN:  0385-2407     ISO Abbreviation:  J. Dermatol.     Publication Date:  2007 Sep 
Date Detail:
Created Date:  2007-08-30     Completed Date:  2007-10-25     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7600545     Medline TA:  J Dermatol     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  601-18     Citation Subset:  IM    
Department of Dermatology, Wakayama Medical University, Wakayama, Japan.
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MeSH Terms
Autoimmune Diseases / genetics*
Connective Tissue Diseases / genetics,  immunology*
Familial Mediterranean Fever / genetics,  immunology*
Inflammation / genetics,  immunology*
Rare Diseases / genetics,  immunology*
Skin Diseases / genetics,  immunology*,  pathology

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