2023-06-27 22:04:20
It is a defect in the DOCK11 gene that leads to disorders in both white and red blood cells. “Such rare and previously unknown diseases give us valuable insights into the principles of blood formation and the immune system. They enable us to better understand the dysregulated processes underlying these diseases,” says Kaan Boztug, scientific director of St. Anna Children’s Cancer Research.
Mysterious Symptoms
The genetic defect was first recognized in a young patient from Spain, in whom, despite repeated tests, no explanation might be found for the severe inflammation of various organs such as the kidneys, intestines and skin. The attending doctor therefore turned to St. Anna Children’s Cancer Research, which is considered the leading center for rare diseases of blood formation and the immune system, to take the blood samples.
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#Newly #discovered #genetic #defect #disrupts #blood #formation
