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Newly discovered genetic defect

In the quest to find the origin of the puzzling symptoms in four children, researchers from St. Anna Children’s Cancer Research Institute (CCRI) and the Medical University of Vienna have discovered a completely new disease, linking disruptions of blood formation, the immune system and inflammation.

The discovery provides the basis for a better understanding of similar diseases.

A newly identified defect in the DOCK11 gene leads to abnormalities in both white and red blood cells, they reported.

“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,” said Kaan Boztug, senior author.

The gene defect was first identified in a young patient from Spain, where despite repeated tests, no explanation could be found for the severe inflammation affecting various organs such as the kidneys, intestines, and skin.

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Image credit | St.-Anna-Children’s-Cancer-Research-Institute

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