Primary immune deficiency diseases (PIDs) are a heterogeneous group of life-threatening genetic disorders of the innate and adaptive immune system. To date, there is still a lot of under-diagnosis as PIDs are very complex and can present clinically in many forms. A large number of PID patients remain undiagnosed or get a label of undefined PID, preventing the design of a rational therapeutic approach.

PID can lead to increased susceptibility to severe and/ or recurrent infections and malignancy, which can easily be diagnosed by specialized centers. The condition, however, can also lead to immune dysregulation resulting in auto-inflammatory diseases related to excessive innate immune activation and auto-immunity.

Such immune dysregulations are much harder to diagnose and manage. Therapeutic options are currently limited due to a lack of molecular insight into PID’s mechanisms and progression. This places a heavy burden not only on patients and families, but also on health care systems.

Jan Phillipé (UZ Gent) highlights another aspect of the social impact plans that are part of this project: “With government support, we will also endeavor to set up a PID screening program for ​newborns in Belgium.”


The VIB-GCP PID consortium will address the urgent need for molecular diagnostic tools to better identify and classify PID patients and guide therapeutic decisions in the clinic. Additionally, research into novel targeted therapeutic concepts based on deep insight in the core immunological and molecular mechanisms driving PID will be performed.

The development and practical implementation of this new knowledge will expand therapeutic options available to physicians and their patients. Not only will this have important and immediate impact on the life of affected patients, it will also have a tremendous scientific impact on reverse translational research.

The project consortium concentrates on two main goals: - innovative biomarkers: standardized high- hroughput screening of potential PID patients combined with immunophenotyping and whole genome genetic analyses to detect rare or novel PID disorders - innovative treatments: establishment of reliable and powerful methods to generate patient-specific laboratory model systems to test innovative patientspecific treatments (e.g. drug re-purposing).



The PID project assembles the combined expertise of the VIB-UGent Center for Inflammation Research, with participation of Bart Lambrecht, Rudi Beyaert, Yvan Saeys, Martin Guilliams, and of the Adrian Liston lab (VIB-KU Leuven Center for Brain & Disease Research). Added to their expert knowledge in cellular and molecular immunology comes the clinical acumen of pediatric and adult internal medicine specialists with proven track records in PID at UZ Leuven, UZ Gent, and UZA (Isabelle Meyts, Filomeen Haerynck, Bart Lambrecht, and Rik Schrijvers). Proper laboratory diagnostics (TREC screening, immunophenotyping, functional immune assays) will be performed in university hospital clinical biology and hematology labs at KU Leuven/UZ Leuven (Xavier Bossuyt, Isabelle Meyts, Rik Schrijvers) and UGent/UZGent (Jan Philippé, Filomeen Haerinck, Elfride de Baere).


Societal impact

Beyond the scientific insight this project will lead to, the project members will contribute to increasing awareness about PID within the broader public. They will shed a light on this rare disorder with substantial impact. An example is the successful PID event held earlier this year, where the project leader Rudi Beyaert joined other project scientists during a day of interaction with PID patients, family and friends. The event was co-organized by Bubble ID, an initiative of the CPIG, the Center for Primary Immune deficiencies Gent, that seeks to remedy both the lack of knowledge concerning PID and the isolation of PID patients.

A similar event will be organized in spring 2020 in Leuven.​


Go back to the overview: 'the Grand Challenges Program'