Inherited autoinflammatory recurrent fevers.
Autoinflammatory diseases have a quite similar clinical picture and are characterised by recurrent episodes of fever, joint features, abdominal features and skin features. Auto-inflammatory syndrome are related to mutations in genes implied in apoptosis or inflammation. FMF's gene is MEFV, present on the short arm of the chromosom 6, encoding the pyrin or marenostrie which is widely expressed in neutrophils and monocyts and implied in the control of the inflammation. Muckle wells syndrome and Familial cold urticaria are related to CIAS1 gene mutations which are located on the long arm of the chromosome 1 and encodes cryopirine involved in apoptosis. TRAPS gene is present on the chromosome 12, the majority of mutations are located in the extra cellular region of the receptor.
Service de Médecine Interne, Hôpital Louis Mourier, 178 rue des Renouillers, 92700 Colombes.
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Pradalier
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Cauvain
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Oukachbi
D001327:Autoimmune Diseases / Q000235:genetics* / Q000503:physiopathology*; D002352:Carrier Proteins / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics; D005334:Fever / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D000071198:Pyrin
D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D000071198:Pyrin