An observational study in Autoimmune Lymphoproliferative Syndrome, Autoimmune Cytopenia and Autoimmune Diseases, sponsored by Institut National de la Santé Et de la Recherche Médicale, France. Completed at 1 site in France. Open to participants aged 1 Year to 18 Years. Per ClinicalTrials.gov, last updated 2026-09-18.
Sponsored by Institut National de la Santé Et de la Recherche Médicale, France · Observational
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).
Primary Immune deficiencies (PIDs) are a group of monogenic diseases related to developmental or functional dysfunction of one or several immune cell types. Individually there are rare entities, but collectively they group several thousands of patients.
Approximately 500 000 patients suffer from PIDs worldwide, making their management a true health-care concern. According to European Society for Immunodeficiencies (ESID), the age group in which PIDs is most frequently diagnosed is under 19 years of age (62%)1. PIDs are causing susceptibility to severe and life-threatening infections by common pathogens, but they also predispose to cancer and can initially manifest as autoimmune and inflammatory diseases.
Multiple mechanisms underlie the development of autoimmunity/inflammation in PIDs. Moreover, their development can be influenced by the composition of the microbiota, which shapes host metabolic and immune functions and can be modified by many environmental factors. In the last two decades a particular emphasis was given to the elucidation of the genomic mutations causing PIDs. This led to a burst of genetic diagnosis as the numbers of known monogenic causes of PIDs rose from around 200 in 2010 to more than 310 in 2017. These genomic approaches revealed that: 1) a given monogenic defect can lead to very dissimilar clinical presentations, disproving the initial concept that a monogenic defect is associated with specific clinical manifestations ; and 2) the number of cases of autosomal dominant genetic deficiencies has increased, with sometimes a partial clinical penetrance so that some relatives carrying the causal genetic variant remain asymptomatic. Hence, onset and presentation of autoimmune and inflammatory diseases in PIDs is highly unpredictable.
PIDs with autoimmunity/inflammation usually require life-long symptomatic treatments including broad immunosuppression or immunotherapies. On the long term, such treatments can have important side effects or poor efficacy and they result in high burden cost. It is therefore crucial to diagnose PIDs as early as possible in order to select the most efficient therapy based not only on clinical features as it is nowadays, but to include the underlying molecular cause of immune dysregulation.
The central goal of this project is to explain the very variable outcome of monogenic autoimmune and inflammatory diseases and to define predictive biomarkers in order to stratify patients and to optimize therapeutic choices.
655 studies on the registry are indexed under Autoimmune Diseases; 275 are open to participants now.
This study's enrollment of 325 is close to the median of 300 across 208 observational studies indexed under Autoimmune Diseases.
Browse Autoimmune Diseases studies →Institut National de la Santé Et de la Recherche Médicale, France is the lead sponsor of 375 studies on the registry; 82 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients with PIDs and autoimmunity/inflammation related to known and unknown genetic defects (ALPS, Cytopenia, Enteropathy-IBD, pSLE, JIA, FHL, CA-EBV, CID) and their healthy relatives (controls) will be recruited in 2 clinical services of Necker hospital: Paediatric Rhumatology Immuno Hematology department Department, and paediatric Paediatric Gastroenterology department Department.
Unrelated controls will be recruited in the Paediatric Rhumatology Immuno Hematology Department, the Paediatric Gastroenterology Department,also be recruited in the Department of Paediatric Visceral and Urologic Surgery and the Department of Maxillofacial Surgery and Paediatric Plastic Surgery within patients hospitalised for a surgery and not affected by an immune-related disease or a cancer.
Inclusion Criteria for controls (patients relatives and unrelated subjects):
Inclusion criteria for patients
Exclusion Criteria:
based on the potential for inclusion of patient's cohort followed in Necker hospital with PIDs and poly-autoimmunity related to known genetic defects. Recruitments will be made at Pediatric Rheumatology Immuno Hematology department, and paediatric Gastroenterology department (n=250). Collection of blood, urine and stools at inclusion and blood at 12 months consultation/ follow-up.
Biological: Collection of samples
Brothers or sisters of the patients (n=125). Collection of blood, urine and stools at inclusion.
Biological: Collection of samples
Recruitments will be made at the Paediatric Gastroenterology Department, in the Department of Paediatric Visceral and Urologic Surgery and the Department of Maxillofacial Surgery and Paediatric Plastic Surgery at Necker's Hospital. Participants will be included if not diagnosed PIDs and poly-autoimmunity (n=125). Collection of blood, urine and stools.
Biological: Collection of samples
Blood, Urine and Stool samples will be collected from the participants.
Generate a diagnosis and therapeutic-decision tools
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 (transcriptomic, epigenomics, proteomic, metagenomic, metabolomics and lipidomics).
Time frame: 5 years
1- Development of an atlas of molecular interactions leading to autoimmunity and inflammation
Research tool integrating transcriptomic, proteomic, epigenetic, metabolomic and lipidomics data of pediatric affected patients as well as healthy pediatric individuals This atlas will be available widely to the public and private research community.
Time frame: 5 years
2 - To develop an artificial intelligent online application
The decision support tool will be interoperable with any clinical information system and will be clinically validated.
Time frame: 5 years
3- Ancillary study (pilot study)
i. Validation of candidate biomarkers associated to diagnosis and prognosis of Juvenile Idiopathic Arthritis patients ; ii. Definition of a specific clinical outcome and early quantification of the performance of a diagnostic decision tool based on omics signatures (proof of concept)
Time frame: 5 years
Plan to share: Undecided
This study is completed, as verified in Sep 2025. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Autoimmune Lymphoproliferative Syndrome
Institut National de la Santé Et de la Recherche Médicale, France