Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042109 (urticaria)
 6,569 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Autoinflammatory diseases. 1724 Jul 43