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.
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
Subjects unable to answer questions or express themselves
Subjects who do not speak French
Subject deprived of liberty or under legal protection.
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Trial groupsSee each trial group below.
Assistance Publique - Hôpitaux de Paris
Lead sponsor
Institut Imagine
Collaborator