Genetics of Autoinflammatory diseases

Team leader:
Pr Isabelle Touitou

What are auto-inflammatory diseases ?

This is a group of recently recognized diseases. It is very difficult to estimate the exact prevalence in France, due to the fact that they are poorly known by medical doctors, and that some mutations are low penetrance. These diseases cause a number of seemingly unprovoked fevers. Little is known on the pathophysiology of these conditions, but it becomes clear that the causing genes participate in the regulation of innate immunity. Ten genes have been identified, among which the first in 1997 in the framework of a French consortium to which belonged our team.

Team activites

We have conducted a transversal activity including diagnosis, research, and information on these diseases. Our research work includes a fundamental axis (pathophysiology of autoinflammatory diseases, and a development axis). Our unit benefits from a good national and international visibility as expert in these diseases through a double designation as a clinical reference center, and a diagnosis laboratory, and through the websites developed by the team.

Useful links

• AFFMF : Association de patients souffrant de fièvres récurrentes
• Association de patients souffrant de la maladie de Behçet
• Orphanet : information sur les maladies (signes cliniques, laboratoires de diagnostic, consultations...)

Contact

Unité médicale des maladies auto-inflammatoires
Laboratoire de génétique
Hôpital Arnaud de Villeneuve
34295, Montpellier cedex 5

Secrétariat :
Tel : 04 67 33 58 57
FAX : 04 67 33 58 67

Send an email