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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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| blood test | Other | blood test as part of routine care |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | At inclusion Day 0 |
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For adults :
Inclusion Criteria :
Exclusion Criteria :
For Kids :
Inclusion Criteria :
Exclusion Criteria :
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Patients with rare autoinflammatory diseases.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Yvan Jamilloux, MD | Contact | 04.26.73.26.36 | +33 | Yvan.jamilloux@chu-lyon.fr |
| Nora Martel | Contact | 04 72 07 13 40 | +33 | nora.martel@chu-lyon.fr |
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| ID | Term |
|---|---|
| D006403 | Hematologic Tests |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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For adult patients:
3 gel-free heparin tubes and 3 EDTA (EthyleneDiamineTetracetic Acid) tubes during two blood tests as part of routine care
For Kids :
depending on Weight