The family of inflammatory/autoimmune systemic diseases (IAD) form a continuum from pure inflammatory diseases to pure autoimmune diseases, encompassing a large panel of inflammatory diseases with some autoimmune components, and vice versa. Cross phenotyping of patients with IAD should be heuristic and help revise the nosography and the understanding of these diseases.
The family of inflammatory/autoimmune systemic diseases (IAD) represents a large group of human diseases. For most if not all of these IAD, the pathophysiological processes or exact causes remain poorly understood. Progresses in molecular understanding of these IAD have led to realize that these are not two distinct categories of diseases. Rather they form a continuum from pure inflammatory diseases to pure autoimmune diseases, encompassing a large panel of inflammatory diseases with some autoimmune components, and vice versa. Using systems biology, the investigator aims to improve the understanding of these diseases, to identify novel genes/pathways involved, specific or across the diseases, and to discover biomarkers and potential therapeutic targets. The investigator will study adult patients with at least one of the following IAD: Rheumatoid Arthritis, Ankylosing Spondylitis, Systemic Lupus Erythematosus/Antiphospholipid Syndrome, Familial Mediterranean Fever (FMF), Cryopyrin-Associated Periodic Syndromes (CAPS) /Tumor Necrosis Factor-receptor Associated Periodic Syndrome (TRAPS), Vasculitis, Uveitis, Myositis, Crohn's Disease, Ulcerative colitis, Type 1 Diabetes. This panel will be completed by controls groups: healthy volunteers, and patients with arthritis (knee and/or hip) or muscular dystrophy. The biological investigations will notably comprise: immunomics (comprehensive evaluation of peripheral blood cell subsets and serum immunoproteomics, including autoantibodies); transcriptomics; Human Leukocyte Antigen (HLA)-phenotyping; genomics; T-Cell Receptor (TCR) sequencing and microbiota studies. After signing the informed consent, the subject attends only one visit (Day 0) during which all biological samples will be taken and all clinical information collected.
Study Type
OBSERVATIONAL
Enrollment
537
Clinical and Biological investigations
Clinical and Biological investigations
Rhumatologie - Hôpital Saint-Antoine
Paris, France
CIC Paris-Est, Hôpital PITIE SALPETRIERE
Paris, France
Total peripheral blood gene expression between patients, expressed as fluorescence intensity
Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach
Time frame: at day 0, no follow-up
Tregs and Tconvs T cell receptor repertoire, expressed as the % of unique TCR sequences
Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach
Time frame: at day 0, no follow-up
HLA type and SNPs expressed as the occurrence events across patients
Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach
Time frame: at day 0, no follow-up
Microbiote species identification expressed as the % of species per family and genus
Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach
Time frame: at day 0, no follow-up
Cytokines and chemokines expressed as fluorescence intensity
Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach
Time frame: at day 0, no follow-up
Immune cells phenotyping expressed as the each cell type % within total PBMCs
Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach
Time frame: at day 0, no follow-up
Changes in gene expression intensity between patients and healthy controls - for each Disease cohorts
Identification of new biomarkers and potential therapeutic by multiscale analysis
Time frame: at day 0, no follow-up
Changes in Tregs and Tconvs TCR sequence frequencies between patients and healthy controls - for each Disease cohorts
Identification of new biomarkers and potential therapeutic by multiscale analysis
Time frame: at day 0, no follow-up
Characterization of HLA and SNP profiles in patients and healthy controls - for each Disease cohorts
Identification of new biomarkers and potential therapeutic by multiscale analysis
Time frame: at day 0, no follow-up
Changes in Microbiote composition between patients and healthy controls - for each Disease cohorts
Identification of new biomarkers and potential therapeutic by multiscale analysis
Time frame: at day 0, no follow-up
Changes in cytokines and chemokines expression levels between patients and healthy controls - for each Disease cohorts
Identification of new biomarkers and potential therapeutic by multiscale analysis
Time frame: at day 0, no follow-up
Changes in immune cells frequencies between patients and healthy controls - for each Disease cohorts
Identification of new biomarkers and potential therapeutic by multiscale analysis
Time frame: at day 0, no follow-up
Identification of specific and common gene expression levels between patients - between Disease cohorts
Identification of new biomarkers and potential therapeutic by multiscale analysis
Time frame: at day 0, no follow-up
Identification of specific and common Tregs and Tconvs TCR sequence frequencies between patients - between Disease cohorts
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Identification of new biomarkers and potential therapeutic by multiscale analysis
Time frame: at day 0, no follow-up
Characterization of specific and common HLA and SNP profiles in patients - between Disease cohorts
Identification of new biomarkers and potential therapeutic by multiscale analysis
Time frame: at day 0, no follow-up
Identification of specific and common microbiote composition between patients - between Disease cohorts
Identification of new biomarkers and potential therapeutic by multiscale analysis
Time frame: at day 0, no follow-up
Identification of specific and common cytokines and chemokines expression levels between patients - between Disease cohorts
Identification of new biomarkers and potential therapeutic by multiscale analysis
Time frame: at day 0, no follow-up
Characterization specific and common variations in immune cells frequencies between patients - between Disease cohorts
Identification of new biomarkers and potential therapeutic by multiscale analysis
Time frame: at day 0, no follow-up