Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation

The main objective of this study is to generate diagnosis and therapeutic-decision tools through the identification of molecular causes of PIDs with autoimmunity/inflammation and the variability in disease outcome at the transcriptional level using a combination of omics signatures (transcriptomics, epigenomics, proteomics, metagenomics, metabolomics and lipidomics).

Inclusion Criteria for controls (patients relatives and unrelated subjects): * Individuals aged\ 6 kg * Individuals not affected by an immune-related disease or not affected by cancer * Individuals whose parents have signed an enlightened consent. Inclusion criteria for patients * Individuals with health insurance. * Patients treated at Necker hospital with PIDs and autoimmunity/inflammation related to known genetic defects (cytopenia, Enteropathy Inflammatory bowel disease (IBD), Systemic Lupus Erythematosus (SLE), Juvenile Idiopathic Arthritis (JIA), Familial Hemophagocytic Lymphohistiocytosis (FHL), chronic EBV infection associated (Ca-EBV) with EBV-infected T and/or Natural Killer (NK) cells and with a high risk to develop macrophage activation syndrome similar to FHL. See table below for diagnosis inclusion criteria. * Individuals aged\ 9 kg * Patients whose parents have signed an enlightened consent. Exclusion Criteria: * Intake of antibiotics within 2 weeks prior inclusion * Absence of parent's or child consent form * Cytotoxic cancer treatments * antiviral treatments (HIV, hepatitis …) * Short term life-threatening conditions * Individuals placed under judicial protection