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AUTOINFLAMMATORY DISEASES

Authors: G, Grateau;

AUTOINFLAMMATORY DISEASES

Abstract

Autoinflammatory diseases can be specified as inborn errors of the innate immune system. The main component of autoinflammatory diseases is the group of hereditary periodic fevers which are characterised by intermittent bouts of clinical inflammation with focal organ involvement mainly: abdomen, musculoskeletal system and skin. The most frequent one is familial Mediterranean fever that affects patients of Mediterranean descent all over the world. Recently, three other types have been characterised, clinically as well as genetically: Tumor Necrosis Factor receptor superfamilly 1A Associated Periodic Fever Syndrome, hyperimmunoglobulinemia D and periodic fever syndrome/ mevalonate kinase deficiency, and the most recently recognised entity which includes Muckle Wells, familial cold autoinflammatory/familial cold urticaria, and the Chronic infantile neurological cutaneous and articular/Neonatal onset multisystemic inflammatory disease syndromes. A thorough diagnosis is warranted, as clinical and therapeutic management is specific for each of these diseases. In addition to hereditary periodic fever, autoinflammatory diseases also encompass Blau, Majeed, and PAPA syndromes. The underlying genetic defects of these inflammatory diseases appear to be specific for each type, involving several so far unknown proteins involved in innate immunity, and have already opened new avenues in our understanding of the inflammatory response.

Keywords

Inflammation, Urticaria, Hereditary Autoinflammatory Diseases, Genetic Diseases, Inborn, Amyloidosis, Pyrin, Receptors, Tumor Necrosis Factor, Autoimmune Diseases, Familial Mediterranean Fever, Cytoskeletal Proteins, Recurrence, Mutation, Humans, Genetic Predisposition to Disease, Biomarkers

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Powered by OpenAIRE graph
Found an issue? Give us feedback
selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
10
Average
Average
Average
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