Developing Tools for Diagnosing and Treating Children With Autoimmune and Inflammatory Immune Disorders

What this Trial Is About

This research aims to develop diagnostic and therapeutic decision-making tools for patients with primary immune deficiencies PIDs that involve autoimmunity and inflammation. These conditions are rare genetic diseases affecting immune cells and can lead to severe infections, cancer, and autoimmune diseases. The study focuses on understanding the molecular causes and variability in disease outcomes by analyzing multiple biological signatures such as transcriptomics, epigenomics, proteomics, metagenomics, metabolomics, and lipidomics. Participants include patients with PIDs and related autoimmune or inflammatory conditions, their siblings, and individuals with other diseases unrelated to immune dysfunction. Samples of blood, urine, and stool will be collected at the start and during follow-up visits, particularly at 12 months for patients. The study gathers comprehensive biological data to build an atlas of molecular interactions and develop an artificial intelligence tool to assist diagnosis and treatment decisions. During the study, participants will provide biological samples and undergo clinical assessments. Researchers will analyze these samples to identify biomarkers and molecular patterns that explain the varying disease courses. The main outcome is the creation of tools to improve diagnosis and therapy decisions over five years. The study includes continuous monitoring and follow-up, with data collected from patients, their relatives, and controls to support findings.

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