Autoinflammatory Disease, Cryopyrin Associated Periodic Syndrome, FMF, Haploinsufficiency, MKD, TRAPS
Conditions
Keywords
Autoinflammatory disease, Mast cells, Mast cell activation syndrome
Brief summary
Autoinflammatory diseases (AID) are caused by innate immunity dysregulation. AID pathophysiology is only partly understood, especially in the case of unclassified AID. Mast cells (MC) are innate immune cells associated with a spectrum of disease between systemic mastocytosis and mast cell activation syndrome. The implication of MC has been shown in cryopyrin associated periodic syndrome (CAPS).Our aim is to evaluate the involvement of MC in AID by assessing clinical and biological signs of MC activation and studying cutaneous and digestive biopsies.
Detailed description
Autoinflammatory diseases (AID) are caused by innate immunity dysregulation and characterized by recurrent bouts of fever, frequently associated with digestive, articular or cutaneous symptoms, and sometimes ocular, auricular or neurologic inflammation. The most frequent monogenic AID is Familial Mediterranean fever (FMF). Despite recent genetic progress AID pathophysiology is only partly understood, especially in the case of unclassified AID. Mast cells (MC) are innate immune cells associated with a spectrum of disease between systemic mastocytosis and mast cell activation syndrome (MCAS). In MCAS, patients have various symptoms including abdominal pain, bloating, pruritus, flush, anxiety, fatigue, among which some are similar to those seen in patients with AID. The implication of MC has been shown in cryopyrin associated periodic syndrome (CAPS). Our hypothesis is that MC could be involved in AID pathophysiology, In order to test this hypothesis, we plan to study : * clinical MC activation symptoms via a standardized clinical score * biological MC mediators : by measuring total serum tryptase and histamine in total blood, plasma and urine * MC infiltration on gastro-intestinal (GI) tract and cutaneous biopsies We will compare clinical MC activation score in AID patients to patients with mastocytosis, with other inflammatory diseases, and with healthy controls.
Interventions
None listed
Sponsors
Institut Imagine
Assistance Publique - Hôpitaux de Paris
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Inclusion criteria
* Patients \>18 years old with Auto-inflammatory diseases already followed up at the CeRéMAIA (french national reference center for autoinflamamtory diseases and AA amyloidosis) of Tenon hospital and included in the JIRcohorte * Healthy adult controls, age- and sex-matched with MAI patients, and controls with mastocytosis, an immuno-inflammatory disease. * Subject affiliated to or entitled to a social security scheme * Collection of the patient's or healthy control's non-opposition
Exclusion criteria
* Subjects unable to answer questions or express themselves * Subjects who do not speak French * Subject deprived of liberty or under legal protection.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| : presence of MCAS | at inclusion | presence of clinical and biological markers of MCAS |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| comparison of clinical symptoms of MC activation between groups | at inclusion | we will compare clinical symptoms of MC activation between AID patients and other groups |
| MC mediators associated to AID | at inclusion | determine which MC mediators are elevated in AID and if they correlate with inflammation |
| MC infiltration in biopsies from AID patients | at inclusion, retrospectively | we will study MC infiltration in digestive, renale and cutaneous biopsies from patients with AID and compare them with biopsies from the other groups from subgroups of patients who had a biopsy performed. |
| basophilic polynuclear activation in AID patients | at inclusion, retrospectively | we will study basophilic polynuclear activation from blood samples of AID patients |
Countries
France
Contacts
Primary ContactSophie GEORGIN-LAVIALLE, PU-PH
Backup ContactNabiha Sbeih, MD
Outcome results
None listed