New test for rare immunodeficiency

Researchers have developed a test to quickly and reliably diagnose a rare and severe immune defect, hepatic veno-occlusive disease with immunodeficiency.

The researchers were able to use the test to reliably determine patients with different mutations in the Sp110 gene in a matter of hours, the detection is based on flow cytometry.

One reason for the lack of progress in the treatment of this disease is that it had previously not been possible to detect the expression of the Sp110 protein in immune cells without significant effort. Prof Recher’s research has now published in the Journal of Clinical Immunology.

Rare diseases are often only diagnosed very late, especially since in many cases, diagnostic tests are not available or are only available in a few laboratories. Hepatic Veno-occlusive disease with immunodeficiency is a clear example of this. It is an immunodeficiency caused by a mutation in the gene Sp110, and children suffering from it often die of severe infections or liver failure during the first year of life.