Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease (prevalence:
 1-5 / 10,000 inhabitants). It is caused by mutations in the MEFV gene, which encodes variants
 of the Pyrine inflammasome. Inflammasomes are protein complexes of the innate immunity that
 produce pro-inflammatory cytokines (interleukin-1β).

 In vitro, our preliminary results demonstrated that the activation of the inflammatory pyrine
 (measured by the concentration of interleukin-1β) by kinase inhibitors is significantly
 increased in FMF patients compared to healthy subjects. Furthermore, a measurement of cell
 death gave significant results in differentiating the patients from the controls.

 The performance of this functional has been tested, fast and simple diagnostic test on common
 mutations and wish to assess its characteristics for MEFV mutations.

 The investigators hypothesize that this quick and simple functional test can serve as a
 diagnostic tool for FMF and can quantitatively discriminate against patients with different
 mutations (genotypes).
Inclusion Criteria:

 -  Children 4 years of age or older or adults

 -  Having a clinical picture compatible with an FMF and a previous genetic analysis
 finding at least one mutation of the MEFV gene pathogenic or possibly pathogenic for
 the FMF group;

 -  Newly diagnosed or in the process of follow-up (with no time limit or evolutionary
 criteria);

 -  During specific or non-specific treatment of the disease or without treatment;

 -  For whom a blood test is planned as part of routine care;

 -  Whose informed non-opposition has been collected (or parental non-opposition in the
 case of a minor patient);

 Exclusion Criteria:

 -  Person under legal protection or under the protection of justice or any other
 protective measures;

 -  Person out of state to express their consent;

 -  Person in emergency situation, vital or not;

 -  Known infections with HIV and / or HBV and / or HCV;