RECRUITINGINTERVENTIONAL

Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases

Biocollection for the Study of Genetic and Immunological Abnormalities in Rare Pediatric-onset Autoimmune and Auto Inflammatory Diseases

About This Trial

Rare diseases are defined as those that affect one person in 2,000, or around three million people in France. The majority of rare diseases are caused by genetics and tend to be severe when they begin in childhood. Autoimmune and autoinflammatory diseases, such as systemic lupus, juvenile dermatomyositis, and juvenile idiopathic arthritis, are examples of rare pediatric diseases. While autoimmune diseases are characterized by an inappropriate adaptive immune response, autoinflammatory diseases involve an excess of the innate immune response. The precise mechanisms of these diseases are not yet fully understood, but recent research has led to advances in their diagnosis and identification, particularly in early onset and familial forms. However, the rarity of these diseases and limited availability of biological samples pose significant challenges. This study aims to create a biological collection, which includes primary cells (PBMC), DNA, RNA, lymphoblastic lines, and serum, that will help identify genetic and immunological abnormalities in rare autoimmune and autoinflammatory diseases through various research projects.

Who May Be Eligible (Plain English)

Who May Qualify: - Patients - minor or adult patient of any age with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (\<18 years), or syndromic or familial - relative of a minor or adult patient with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (\<18 years of age) or syndromic or familial, - weight greater than 5 kg - Patient/parents/guardians who were informed of the study and signed the consent form. - patient affiliated to a social security scheme Healthy volunteer participants - minor or adult participants with no age restrictions - weight over 5 kg - Subject /Parents/guardians who were informed of the study and signed a consent form. - Patient affiliated to a social security scheme Who Should NOT Join This Trial: Patients \- Subjects /Parents/guardians, refusing to participate in the study Healthy volunteer participants : - active infection (viral, bacterial, parasitic) - history of neoplasia (\< 5 years) or current neoplasia - participants with a personal or family history of autoimmune conditions (where your immune system attacks your own body) - immunocompromised participant (immune deficiency or transplant recipient) - Subjects/parents/guardians refusing to participate in the study - Adults under legal protection (guardianship, curatorship) Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language

Inclusion Criteria: * Patients * minor or adult patient of any age with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (\<18 years), or syndromic or familial * relative of a minor or adult patient with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (\<18 years of age) or syndromic or familial, * weight greater than 5 kg * Patient/parents/guardians who were informed of the study and signed the consent form. * patient affiliated to a social security scheme Healthy volunteer participants * minor or adult participants with no age restrictions * weight over 5 kg * Subject /Parents/guardians who were informed of the study and signed a consent form. * Patient affiliated to a social security scheme Exclusion Criteria: Patients \- Subjects /Parents/guardians, refusing to participate in the study Healthy volunteer participants : * active infection (viral, bacterial, parasitic) * history of neoplasia (\< 5 years) or current neoplasia * participants with a personal or family history of autoimmune disease * immunocompromised participant (immune deficiency or transplant recipient) * Subjects/parents/guardians refusing to participate in the study * Adults under legal protection (guardianship, curatorship)

Treatments Being Tested

GENETIC

Blood sample for genetic analysis

genetic analysis (WES, WGS) for the identification of germline and somatic mutations responsible for rare autoimmune diseases or auto-inflammatory pathologies (pediatric or syndromic or familial) that began in childhood

OTHER

Blood sample for immunological response assessments

Identifying specific immunological factors in patients with rare pediatric autoimmune and auto inflammatory diseases

OTHER

Blood sample to identify relevant biomarker of the disease

Research biomarkers for diagnosis, prognosis and monitoring of disease activity

Locations (13)

Service de rhumatologie pédiatrique Hôpital Femme-Mère-enfant

Bron, Bron, France

Hôpital Jeanne de Flandre (CHU de Lille)

Lille, Lille, France

Hôpital Claude Huriez (CHU de Lille)

Lille, Lille, France

Hôpital Archet 2

Nice, Nice, France

Hôpital Necker-Enfants Malades (AP-HP)

Paris, Paris, France

Hôpital Robert Debré (AP-HP)

Paris, Paris, France

Hôpital Kremlin-Bicêtre (AP-HP)

Paris, Paris, France

Hôpital Nord (CHU ST-Etienne)

Saint-Etienne, Saint Etienne, France

Hôpital Couple Enfant

Grenoble, France

Dr Isabelle MELKI

Paris, France

CLCC Henri Becquerel

Rouen, France

Pr Ariane ZALOSZYC

Strasbourg, France

Dr Vanessa Remy-Piccolo

Villefranche-sur-Saône, France