Newly discovered genetic defect disrupts blood formation and immune system

In the quest to find the origin of the puzzling symptoms in four children, researchers from St. Anna Children's Cancer Research Institute, the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (ÖAW), and the Medical University of Vienna have discovered a completely new disease, linking disorders of blood formation, the immune system, and inflammation. This groundbreaking discovery provides the basis for better understanding similar diseases. It is a milestone that the researchers have now published in a highly respected international journal, the New England Journal of Medicine. A newly identified defect in the DOCK11 gene leads to abnormalities in both white and red blood cells. "Such rare and previously unknown diseases provide valuable insights into the fundamental principles of blood formation and the immune system. They allow us to better understand the dysregulated processes underlying these diseases," explains Kaan Boztug, senior author of the study and Scientific Director of St. Anna Children's Cancer Research Institute (St. Anna CCRI). The gene defect was initially identified in a young patient from Spain who exhibited severe inflammation in various organs such as the kidneys, intestines, and skin, despite repeated tests failing to explain the cause.