Format

Send to:

Choose Destination
See comment in PubMed Commons below
Best Pract Res Clin Rheumatol. 2008 Oct;22(5):811-29. doi: 10.1016/j.berh.2008.08.009.

Autoinflammatory diseases.

Author information

  • 1CHU Montpellier, Unité médicale des maladies autoinflammatoires, Hôpital A de Villeneuve, Montpellier, France. isabelle.touitou@igh.cnrs.fr

Abstract

Autoinflammatory diseases (AIDs) are illnesses caused by primary dysfunction of the innate immune system. Proteins that are mutated in AIDs mediate the regulation of NFkappaB activation, cell apoptosis, and IL-1beta secretion through cross-regulated and sometimes common signaling pathways. AIDs include a broad number of monogenic [e.g., familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), mevalonate kinase deficiency (MKD), tumor necrosis factor (TNF)-receptor-associated periodic syndrome (TRAPS)] and multifactorial (e.g., Behçet's syndrome) disorders. These conditions are characterized by recurrent attacks of fever, abdominal pain, arthritis, and cutaneous signs; these symptoms sometimes overlap, obscuring diagnosis. Distinguishing signs and the use of specific functional tests where available (e.g., in MKD) are helpful. However, some patients remain hard to manage despite the advent of new genetic tests and/or due to lack of effective treatment.

PMID:
19028365
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk