Auto-inflammatory diseases are part of a heterogeneous group of illnesses manifested by an inflammatory reaction in its initial phase (innate immunity) that is activated inappropriately: either because the reaction is too strong, or because it is not justified (e.g. in the absence of infection).
Autoinflammatory diseases are often initially described as genetic in origin (i.e. hereditary or familial), and preferentially affect children or young adults. However, the preponderance of auto-inflammation as a cause of symptoms has led to the development of a number of other diseases. In some cases, autoinflammatory diseases may also remain "unclassified".
Generally speaking, autoinflammatory diseases manifest as recurrent attacks of fever, rash and joint pain. Certain signs are more specific to certain diseases, such as urticaria, abdominal pain, mouth ulcers or cervical lymph nodes... It is above all the repetition of the attacks and their unprovoked nature that attract the attention of the patient and the doctor. These attacks are systematically associated with an increase in inflammation markers in the blood.
At present, not all inflammation pathways have been identified. With this study, investigator aim to characterize rare autoinflammatory disease variants and develop relevant cellular models to study inflammation pathways.
Major patient
Patient with a rare autoinflammatory disease
Patient who has given his or her consent to participate in research
Patient under legal protection or safeguard of justice or any other protective measure (guardianship, curatorship)
Patient with known infection with hepatitis B or C virus or human immunodeficiency virus (HIV)
Minor patients (between 4 and 17 years of age)
Patient with a rare autoinflammatory disease.
Patients with rare autoinflammatory diseases. * minor patients, as 70% of rare autoinflammatory diseases are expressed and diagnosed in childhood (Familial Mediterranean Fever (FMF), Periodic Fever-Aphthous Stomatitis-Pharyngitis-Adenopathy Syndrome (PFAPA), Cryopyrin-Associated Periodic Syndrome (CAPS), Mevalonate Kinase Deficiency (MVK)). * adult patients, as certain rare autoinflammatory diseases are discovered in adulthood (FMF depending on variant, tumor necrosis factor receptor 1-related relapsing fever syndrome (TRAPS)) or are revealed in adulthood (adult STILL disease, Behçet syndrome, Schnitzler syndrome, VEXAS syndrome (Vacuoles, Enzyme E1, X-linked, Autoinflammatory, Somatic))
Cohort
Prospective
blood test
Other interventionblood test as part of routine care
The main judgment criterion will be analysis of the Cytokine/chemokine release assays.
Comparison of pro- and anti-inflammatory cytokine concentrations (IL-8, TNF (Tumor Necrosis Factor), chemokine CC ligand 3 and 4 concentrations (CCL3, CCL4) by ELISA in cells supernatants according to the inflammatory pathway involved.
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This trial is not recruiting at the moment. You can still explore other options:
