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AssigneesInserm (Institut National De La Sante Et De La Recherche Medicale), Universite Claude Bernard Lyon 1, Ecole Normale Superieure De Lyon, Centre National de la Recherche Scientifique (CNRS), Hospices Civils De Lyon
InventorsThomas HENRY, Yvan JAMILLOUX, Lucie LEFEUVRE, Amandine MARTIN, Flora MAGNOTTI, Alexandre BELOT
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The present invention relates to a non-invasive, specific and rapid diagnostic method of Familial Mediterranean fever (FMF) in a subject said method comprising the step of measuring the level of cytokine (IL-18 or IL-1 beta) secreted by immune primary cells (or cell death level of these cells) obtained from said subject, which have been beforehand treated with a Protein Kinase C (PKC) inhibitor, and optionally beforehand treated with a NF-kB activator such as LPS. Inventors show based on the extensive study of the inflammasome process of the monocytes, that PKC superfamily inhibitors trigger inflammasome activation in monocytes from FMF patients while they are not sufficient to do so in monocytes from healthy donors (HD) or from patient having hyperimmunoglobulinemia D syndrome (HID S). Using cytokine release quantification or determination of real time cell death kinetics, inventors demonstrate that PKC superfamily inhibitors can discriminate FMF patients from HD or from patients with systemic inflammation from other aetiologies. These results thus set-up the basis for the development of a rapid functional specific diagnostic test for FMF. Methods of treatment are disclosed.
An in vitro method for diagnosing Familial Mediterranean Fever (FMF) disease in a subject, comprising the steps of i) treating immune primary cells obtained from the subject with a NF-κB activator and then with a Protein Kinase C (PKC) inhibitor ii) detecting the level IL-1 beta secreted from the immune primary cells supernatant iii) comparing the level determined in step ii) with a reference value and iv) concluding that the subject suffers from Familial Mediterranean Fever when the level of IL1 beta determined at step ii) is higher than the reference value.
An in vitro method for diagnosing Familial Mediterranean Fever (FMF) disease in a subject, comprising the steps of i) treating immune primary cells obtained from the subject with a Protein Kinase C (PKC) inhibitor ii) detecting the level of IL-18 secreted from the immune primary cells iii) comparing the level determined in step ii) with a reference value and iv) concluding that the subject suffers from an Familial Mediterranean Fever when level of IL-18 determined at step ii) is higher than the reference value.
10-16. (canceled)
Method of treating Familial Mediterranean fever (FMF) in a subject in need thereof, comprising:
Dependencies are inferred from the claim text.