Patients with a suspected PID are screened at the hospital using conventional tests. When these tests fail to deliver candidate genes, an in-depth characterization of the PID genotype is initiated.

Standardized high-throughput screening of potential PID patients combined with immunophenotyping and whole-genome genetic analyses are applied to detect rare or novel PID disorders. The deep insight in the core immunological and molecular mechanisms driving the specific PID will expand therapeutic options available to physicians and their patients.

Reliable and powerful methods will be established to generate patient-specific laboratory model systems (cellular and murine). These patient-specific model systems will be utilised to test innovative patient-specific treatments (e.g. drug repurposing).

Concomitantly, the project also aims to start a PID newborn screening program in Belgium to detect PID in an early stage. This will be done using a heel-pricked drop of dried blood on a Guthrie Card (kind of tissue paper) and blood analysis. PID screening was recently added to the list of soon to be implemented newborn screening programs by the government (after technical validation).