| Clinical and biochemical landmarks in systemic autoinflammatory diseases. | |
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MedLine Citation:
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PMID: 21972825 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Abstract Systemic autoinflammatory diseases are a group of inherited disorders of the innate immune system characterized by seemingly unprovoked inflammation recurring at variable intervals and involving skin, serosal membranes, joints, and gastrointestinal apparatus, with reactive amyloidosis as a possible severe long-term complication. Recent advances in genetics and molecular biology have improved our understanding of the pathogenesis of these diseases, including familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes, and hereditary pyogenic and granulomatous disorders: the vast majority of these conditions are related to the activation of the interleukin-1 pathway, which results in (or from?) a common unifying pathogenetic mechanism. Their diagnostic identification derives from the combination of clinical data, evaluation of acute phase reactants, clinical efficacy in response to specific drugs, and recognition of specific mutations in the relevant genes, although genetic tests may be unconstructive in some cases. This review will discuss clinical and laboratory clues useful for a diagnostic approach to systemic autoinflammatory diseases. |
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Authors:
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Luca Cantarini; Donato Rigante; Maria Giuseppina Brizi; Orso Maria Lucherini; Gian Domenico Sebastiani; Antonio Vitale; Valentina Gianneramo; Mauro Galeazzi |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-10-5 |
Journal Detail:
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Title: Annals of medicine Volume: - ISSN: 1365-2060 ISO Abbreviation: - Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-10-6 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8906388 Medline TA: Ann Med Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Unit of Rheumatology, Policlinico Le Scotte, University of Siena , Siena , Italy. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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