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The earlier life-threatening immunodeficiencies are detected, the better they can be treated. For this reason, in future it will be possible to search for severe immunodeficiencies as part of newborn screening. The international research project EuroCID, led by Prof. Dr. Stephan Ehl, Medical Director at the Center for Chronic Immunodeficiency (CCI) at the Medical Center - University of Freiburg, is to lay the foundations for such screening. It is being funded by the European Commission with 1.2 million euros. The aim of the researchers is to develop reliable diagnostics and standardized treatment plans for children who have been found to have a so-called combined immunodeficiency. A total of seven research groups from Germany, France, Italy, Poland and Israel are involved in the project.

"Our goal is to have introduced newborn screening for life-threatening immunodeficiencies in Germany in two to three years," says Prof. Ehl. "Screening enables early diagnosis of the diseases so that we can save the lives of around ten to 15 children in Germany every year with a timely stem cell transplant," he continues. In many cases, such a transplantation of foreign immune stem cells is the only way to cure the diseases. So far, however, there are no standardized procedures for the treatment of rare combined immunodeficiencies.

In the project part of the Center for Chronic Immunodeficiency (CCI) at the Medical Center - University of Freiburg, which is funded with a good 200,000 euros, the researchers are using state-of-the-art techniques to focus on investigating changes in the immune system that could be used to predict the course of a disease. "This is the prerequisite for ensuring that stem cell transplants can be carried out at the right time in children identified through screening," says Prof. Ehl.

In addition, the EuroCID project aims to systematize the clinical care of patients and standardize it at a European level, including with pilot projects currently underway in France and Italy. To this end, cooperation with the European Immunodeficiency Registry, which is based at the CCI of the Medical Center - University of Freiburg, is also being sought.

The EuroCID project is researching so-called combined immune diseases (combined immunodeficiencies, CID), in which both the immune system's defense T cells and antibody-producing B cells are impaired. In comparison to severe combined immunodeficiencies (SCID), residual functions of the immune system and thus partial protection against viruses, bacteria and fungi are preserved. However, both forms can be life-threatening.

Further information:

Center for Chronic Immunodeficiency