[Periodic fever syndromes].
Periodic fever syndromes comprise a group of disorders characterized by attacks of seemingly unprovoked inflammation. The genetic causes of five hereditary autoinflammatory syndromes have been identified in the last few years: familial Mediterranean fever, the cryopyrinopathies [Muckle-Wells, chronic infantile neurological, cutaneous, articular syndrome (CINCA) and familial autoinflammatory syndromes], TNF-receptor associated periodic syndrome, cyclic neutropenia syndrome and periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. The study of periodic fever syndromes has progressed from clinical characterization to genetic analysis and to the definition of the functional defects linking genes or domains to apoptotic proteins and signal transduction pathways. This new research opens the way for more specific treatment options with a further improvement in prognosis and outcome.
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Abteilung für Kinder- und Jugendheilkunde, Landeskrankenhaus Bregenz, Carl Pedenz Strasse 2, 6900 Bregenz. christian.huemer@lkhb.at
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D000293:Adolescent; D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003078:Colchicine / Q000627:therapeutic use; D003080:Cold Temperature / Q000009:adverse effects; D003598:Cytoskeletal Proteins / Q000235:genetics; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D006942:Hypergammaglobulinemia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D007072:Immunoglobulin D / Q000097:blood; D007223:Infant; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D000071198:Pyrin; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics; D012307:Risk Factors
D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; D005938:Glucocorticoids; D007072:Immunoglobulin D; D053590:Interleukin 1 Receptor Antagonist Protein; C000604192:MEFV protein, human; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D000071198:Pyrin; D018124:Receptors, Tumor Necrosis Factor; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase; D003078:Colchicine