Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

The Netherlands
Multi-omics approaches for discovery of new disease mechanisms of LAD-I and LAD-III immunodeficiencies

Project Coordinator

University of Helsinki


Ronen Alon Weizmann Institute of Science Rehovot , Israel
Markus Moser Max-Planck-Institute of Biochemistry Martinsried, Germany
Taco Kuijpers Academisch Medisch Centrum Amsterdam, The Netherlands


The immune system protects us from infectious disease and cancer. In immunodeficiency disease, the function of the immune system is compromised, which means that the body cannot defend itself properly against infections or tumors. We are interested in a group of rare genetic immunodeficiency diseases, called leukocyte adhesion deficiencies (LAD). LAD disorders are characterized by a failure of immune cells to exit the blood stream and enter tissues to fight infection. The patients also suffer from other symptoms, and usually die young from bacterial infections or bleeding unless they get a bone marrow transplant to replace their non-functional cells.


Although the genetic mutations that cause LAD are already known, exactly how mutations in certain genes cause the variable disease symptoms in LAD is still unclear. In this project, we will unite the forces of four research teams that have identified the first LAD cases and their genetic causes, to discover and investigate new disease mechanisms underlying different LAD syndromes. This research program uses state-of-the-art “omics” methods combining the expertise from the different laboratories in the consortium. Ultimately, we hope to gain useful insights into the disease causes of LAD immunodeficiencies and identify new routes for intervention with the complications arising in these severe immunodeficiency diseases.



E-Rare 2012 - Created by Toussaint Biger