hereditary autoinflammatory diseases
Autoinflammatory diseases are defined as recurrent "unprovoked" inflammatory events which do not produce high-titer autoantibodies or antigen-specific T cells.
The autoinflammatory disorders are a new and expanding classification of inflammatory diseases characterized by recurrent episodes of systemic inflammation in the absence of pathogens, autoantibodies or antigen specific T cells.
These disorders are caused by primary dysfunction of the innate immune system, without evidence of adaptive immune dysregulation.
Innate immune abnormalities include aberrant responses to pathogen associated molecular patterns (PAMPs) like lipopolysaccharide and peptidoglycan, prominent neutrophilia in blood and tissues, and dysregulation of inflammatory cytokines (IL-1beta, TNF-alpha) or their receptors.
Types
Familial Mediterranean fever (FMF)
mevalonate kinase deficiency (MKD)
hyperimmunoglobulinemia D with periodic fever syndrome (HIDS)
tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
cryopyrin-associated periodic syndrome (CAPS)
Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne syndrome, (PAPA syndrome)
chronic recurrent multifocal osteomyelitis (CRMO)
familial juvenile systemic granulomatosis (Blau syndrome)
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
pyoderma gangrenosum
acne (PAPA)
Crohn disease
Behçet disease
References
Galeazzi M, Gasbarrini G, Ghirardello A, Grandemange S, Hoffman HM, Manna R, Podswiadek M, Punzi L, Sebastiani GD, Touitou I, Doria A. Autoinflammatory syndromes. Clin Exp Rheumatol. 2006 Jan-Feb;24(1 Suppl 40):S79-85. PMID: 16466630
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