In France, genetic testing for Inborn Errors of Immunity (IEI) is predominantly conducted at the Study Centre for Primary Immunodeficiencies (CEDI), located at the Necker Hospital in Paris. This laboratory is a National Reference Centre for IEI. The laboratory performs both immunological and genetic analyses for the diagnosis and ongoing monitoring of patients with IEI.
The genetic tests are prescribed following discussions between physicians and biologists. The appropriate tests are selected and interpreted based on the patient’s clinical symptoms, family history, laboratory patterns and functional testing (if available).
The hospital laboratory studies various tissue samples, including:
- Blood or buccal swab for postnatal diagnosis
- Chorionic villi or amniotic fluid for prenatal diagnosis
Two approaches are used for genetic analysis, depending on the clinical indication:
- Direct Sanger sequencing, or
- Targeted sequencing using a panel of over 500 genes of IEI (NGS), which is updated annually.
At CEDI, a medical geneticist (Prof. Picard) provides genetic counselling for patients. Diagnosed IEI patients are then registered in the National Reference Centre for IEI (CEREDIH).
Lastly, newborn screening for SCID (TREC screening) will be introduced in September 2025 as part of France’s mandatory screening program.
Pr Capucine PICARD, MD, PHD
Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (APHP), Paris, France , rdv.cedi.nck@aphp.fr
