Autoinflammatory diseases (AID) are genetic diseases responsible for excessive activation of innate immunity leading to blood inflammation and systemic symptoms. Most patients display digestive involvements that may resemble inflammatory bowel disease. Several studies have found dysbiosis in some AID. Gut microbiota can communicate with the host via gut-derived metabolites (Fatty acids, tryptophan, bile acids) that may have either pro-inflammatory or anti-inflammatory effects. Some metabolites can also activate the Aryl hydrocarbon receptor (AhR) pathway, which enhances gut barrier. Gut barrier dysfunction has already been associated with AID. Therfore, dysbiosis could promote digestive and inflammatory involvements in genetically predisposed patients via perturbations of gut-derived metabolites.
Inclusion Criteria:
Patients with autoinflammatory diseases aged >12 years and followed in the CEREMAIA internal medicine department present for consultation or day hospital for a routine care visit.
FMF defined by the Eurofever/PRINTO criteria
or CAPS définie by the Eurofever/PRINTO criteria
or MKD defined by the Eurofever/PRINTO criteria
or - DADA2 defined by the presence of two mutations in the ADA2 gene with pathogenicity of at least ≥ 3
or - HA20 defined by the presence of one TNFAIP3 mutation with pathogenicity of at least ≥ 3
or - JAAD defined by the presence of one JAK1 mutation with pathogenicity of at least ≥ 3
or Juvenile polyarthritis defined by the presence of one LACC1 mutation with pathogenicity of at least ≥ 3
or - Unclassified AMI defined by:
Collection of non-opposition to participation in research and specific consent for the biological collection of the patient or their legal representative in the case of a minor patient
Lack of legal protection
Patients benefiting from a social security scheme
Exclusion Criteria:
sophie.georgin-lavialle@aphp.fr
ines.elhani@aphp.fr01 56 01 70 82 ext. +33
Host-microbiota-environment Interactions
Phenomics in Autoimmune and Inflammatory Diseases
Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis
Development and Characterization of Functional Assays for the Analysis of Inflammation Signaling Pathways
Are Mast Cells Involved in Autoinflammatory Diseases
Role of the Chemical Environment in the Pathogenesis of Inflammatory Bowel Disease
Immunome Project Consortium for Autoinflammatory Disorders
Molecular Diagnosis of Systemic Autoinflammatory Diseases