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hereditary autoinflammatory diseases

 

Autoinflammatory diseases are defined as recurrent "unprovoked" inflammatory events which do not produce high-titer autoantibodies or antigen-specific T cells.

Types

-  Familial Mediterranean fever (FMF)
-  hyperimmunoglobulinemia D with periodic fever syndrome (HIDS)
-  tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
-  Muckle-Wells syndrome (MWS)
-  familial cold autoinflammatory syndrome (FCAS)
-  chronic infantile neurologic cutaneous articular (CINCA) syndrome or neonatal-onset multisystem inflammatory disease (NOMID)
-  pyogenic sterile arthritis
-  cryopyrin-associated periodic syndrome (CAPS)
-  pyoderma gangrenosum
-  acne (PAPA)
-  familial juvenile systemic granulomatosis (Blau syndrome)
-  Crohn disease
-  mevalonate kinase deficiency

References

-  Tunca M, Ozdogan H. Molecular and genetic characteristics of hereditary autoinflammatory diseases. Curr Drug Targets Inflamm Allergy. 2005 Feb;4(1):77-80. PMID: #15720239#

-  Touitou I, Notarnicola C, Grandemange S. Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies? Am J Pharmacogenomics. 2004;4(2):109-18. PMID: #15059033#

-  McDermott MF, Aksentijevich I. The autoinflammatory syndromes. Curr Opin Allergy Clin Immunol. 2002 Dec;2(6):511-6. PMID: #14752334#



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