LADOMICS

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.