March 15, 2023

IPOPI’s visit to the Clinical Immunology Department of Erasmus Medical Centre in Rotterdam

Professor Martin van Hagen, the vice-chair of IPOPI’s Medical Advisory Panel, kindly invited IPOPI to visit his Clinical Immunology Department at Erasmus Medical Center in Rotterdam, the Netherlands.  Our Medical Affairs Project Manager, Samya Van Coillie, was welcomed by him and his team to gain a better understanding of what goes on behind the scenes of primary immunodeficiency (PID) research.

A wide range of research topics

Many of the research projects led by Dr. Hanna Ijspeert are directly linked to interesting findings made in the clinic, such as the development of secondary complications or a newly detected genetic variant seen in a patient. As PhD student Astrid van Stigt explained, one of the interests of the group is to study the role of granulomas, clusters of inflammatory cells, in common variable immunodeficiency (CVID). Such granulomas are present in up to 20% of CVID patients but why and how they develop is not well understood. PhD student Zijun Zhou, on the other hand, is mainly focused on the functional validation of variants discovered in PID-related genes by introducing the same variants in cells for laboratory study. Samya had the exciting opportunity to follow some of this laboratory work firsthand.

Zijun recently found several interesting variants in genes that are associated with the development of PIDs. Intriguingly, these variants were not necessarily observed in patients but were present in the DNA of different types of Neanderthals, the extinct archaic humans from whom we inherited 1-6% of our DNA, and who lived around 40,000 years ago. Her hypothesis is that the presence of these variants may have increased the susceptibility of Neanderthals to specific infections, ultimately contributing to their extinction. While Samya was visiting the lab, she followed a procedure to investigate the protein profile of cells which had been manipulated to express one of the gene variants. More information on this interesting research can be found on our website.

Transition care practices at Erasmus MC

In addition to visiting the laboratory unit, Samya observed the procedure for subcutaneous immunoglobulin administration in a patient and attended a meeting regarding transition management from paediatric to adult services. Currently, PID patients from the children’s hospital at Erasmus MC start receiving questionnaires at the age of 12 to assess their understanding of the disease and therapeutic needs. In older children, the focus on independent care management becomes greater. To encourage a smooth transition to the adult hospital at least one consultation with both the paediatric and adult physician is organised. A pilot project on best practices in transition care has recently started in various departments in the hospital, showing the continuous efforts that are being made to improve this key aspect of care.

This has been a very interesting and educational experience to gain some more insight into PID care management and research, we thank Professor van Hagen and his team for the invitation!