Abstract |
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 autoimmunity. In this group, they are included the hereditary periodic fever syndromes: familial mediterranean fever (FMF), hyper 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 inflammation and apoptosis. The purpose of this article, is to carry out review of the genetic, clinical, molecular and rheumatologic aspect of these syndromes, in part unknown. 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.
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Authors | M L Horcada Rubio, C Delgado Beltrán, C Armas Ramírez |
Journal | Anales de medicina interna (Madrid, Spain : 1984)
(An Med Interna)
Vol. 21
Issue 3
Pg. 143-7
(Mar 2004)
ISSN: 0212-7199 [Print] Spain |
Vernacular Title | Trastornos autoinflamatorios: un nuevo concepto en síndromes de fiebre recurrente hereditaria. |
PMID | 15043497
(Publication Type: English Abstract, Journal Article, Review)
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Chemical References |
- Receptors, Tumor Necrosis Factor
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Topics |
- Autoimmune Diseases
(genetics, immunology)
- Diagnosis, Differential
- Familial Mediterranean Fever
(diagnosis, genetics, therapy)
- Humans
- Inflammation
(genetics, physiopathology)
- Molecular Biology
- Mutation
(genetics)
- Periodicity
- Receptors, Tumor Necrosis Factor
(genetics)
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