Researchers at the University of Basel have developed a test to quickly and reliably diagnose a rare and severe immune defect, hepatic veno-occlusive disease with immunodeficiency. They reported on their findings 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.
