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Inherited autoinflammatory recurrent fevers.

Authors
  • Pradalier, A
  • Cauvain, A
  • Oukachbi, Z
Type
Published Article
Journal
European annals of allergy and clinical immunology
Publication Date
Jan 01, 2006
Volume
38
Issue
1
Pages
5–9
Identifiers
PMID: 16544581
Source
Medline
License
Unknown

Abstract

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.

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