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Anales de Medicina Interna
Print version ISSN 0212-7199
Abstract
HORCADA RUBIO, M. L.; DELGADO BELTRAN, C. and ARMAS RAMIREZ, C.. Autoinflammatory disorders: a new concept in hereditary periodic fever syndromes. An. Med. Interna (Madrid) [online]. 2004, vol.21, n.3, pp.55-59. ISSN 0212-7199.
At last year the great scientific advances in genetics and molecular biology have led to a bigger knowledge about we nowadays call “ Autoinflammatory syndromes”, characterized by recurrent inflammatory episodes genetically determined and not mediated by autoinmmunity. In this group, they are included the hereditary periodic fever syndromes: familial mediterranean fever (FMF), hiper Ig-D syndrome (HIDS), TNF-receptor-associated periodic syndrome (TRAPS), Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome (FCAS), CINCA syndrome. The past 6 year have witnessed the identification of genes causing these diseases. Some of these genes encode proteins with a common domain ( PYRIN domain). These protein are part of regulatory pathway of inflammationand apoptosis. The purpose of this article, is to carry out review of the genetic, clinical, molecular and rheumatologic aspect of these syndromes, in part unknow. Although they are not common, they are not absent in our diary clinical practise. Their study and research we will be able to obtain new knowledge that lead us to solve the complex inflammatory process.
Keywords : Autoinflammatory síndromes; Periodic fever familial mediterranean Fever (FMF); Hiper Ig-D syndrome (HIDS); TNF-receptor-associated periodic syndrome (TRAPS); Muckle-Wells syndrome (MWS); Familial cold autoinflammatory syndrome (FCAS); CINCA syndrom.