Patient Story
Patient Story
This patient story is part of the talk given by Prof. Dr. med. Ania C. Muntau on behalf of the Hamburg HCC.HITT Team at the BMBF hearing on the 4th of March 2021.
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Transcript of the video
Hamburg Center for Child Healthcare Innovation, Translation and Treatment.
The story of Jannis, a 10 months old boy from Latvia, illustrates how patients navigate through the HCC.HIIT areas of expertise.
He presented with a severe cholestatic liver disease. We identified a homozygous truncation of the gene encoding the bile salt export pump. Unfortunately, after liver transplantation from the mother and two retransplantations intrahepatic cholestasis reoccurred, because of antibody production against the bile salt pump of the donors.
Ultimately, we dared to replace the patient’s immune system by allogeneic hematopoetic stem cell transplantation. Soon after, cholestasis disappeared and liver function normalized.
The family received psychosocial intervention and support during the whole course of the disease. This observation prompted a research project on neo-antigens further fueling our therapeutic innovation program.
Today, Jannis is a healthy 4 years old boy.