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

Summary

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).

Eligibility

Inclusion Criteria for controls (patients relatives and unrelated subjects):

* Individuals aged\<18 y/o.
* Individuals \> 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\<18 y/o.
* Individuals \> 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

Conditions24

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