University of Basel develops new diagnostic test for rare immunodeficiency


Swiss researchers from the University of Basel have developed a new test to diagnose rare and severe hepatic veno-occlusive disease with immunodeficiency.

The disease is characterised by a mutation in the gene Sp110 and is known to result in severe infections or liver failure in the first year of a child’s life.

Developed for rapid detection of the disease, the new test is intended to act as an alternative for existing diagnostic examinations that diagnose late and are usually not available or are only present in few laboratories.

As the existing tests are based on measuring T cell receptor excision circles (TREC), they cannot reliably identify the veno-occlusive disease with immunodeficiency since it is not associated with severe T cell lymphopenia at birth.

"The new test is reported to have reliably detected patients with different Sp110 gene mutations within a few hours."

Led by the University of Basel Department of Biomedicine’s Mike Recher, the research group designed the new test as a new, quick and easy-to-use tool to detect the presence of the Sp110 protein in immune cells present in the blood.

Professor Recher said: “We expect that this test will soon be used in laboratories to diagnose a Sp110 deficiency. The test will also help us quickly discover more about the biological function of Sp110.”

The new method of detection is based on flow cytometry, where laser light is used to measure the properties of individual cells.

The new test is reported to have reliably detected patients with different Sp110 gene mutations within a few hours.