Autoinflammation (overview)
Immune diseases are characterized by pathogenic involvement of components of the immune system. These disorders include autoimmune diseases, where dysregulation of the specific adaptive immune system causes lymphocyte reactivity, including elaboration of antibody directed against self. Examples are rheumatoid arthritis and systemic lupus erythematosus, where inflammation is associated with antibodies directed against IgG (rheumatoid factor) and against nuclear components (nucleoproteins and DNA).
In parallel with autoimmune diseases, the concept of autoinflammatory diseases have emerged recently as disorders characterized by seemingly unprovoked inflammation. These conditions are primarily caused by dysregulation of the innate immune system without primary involvement of T-lymphocytes or specific (auto)antibodies. Important pathogenic factors include defective regulation of immunologically nonspecific mediators of inflammation, for example complement factors and cytokines.
Similar mechanisms may be involved as copathogenic factors in the development of other diseases, including autoimmune diseases (rheumatoid arthritis, multiple sclerosis, insulin-dependent diabetes mellitus, and others).
Examples of autoinflammatory diseases include:
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Hereditary periodic fever syndromes |
TNF-receptor-associated periodic syndrome (TRAPS)
- Familial Hibernian fever
- Autosomal dominant periodic fever with amyloidosis
- Benign autosomal dominant familial periodic fever
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Granulomatous inflammation |
Blau syndrome (chronic granulomatous synovitis with uveitis and cranial neuropathy)
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Familial urticarial syndromes |
Familial cold urticaria
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Complement disorder |
Hereditary angioedema
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Vasculitis syndrome |
Behçet's disease
Adapted from Galon et al. TNFRSF1A mutations and autoinflammatory syndromes. Curr Opin Immunol 2000; 12: 479-86.
