Genetic Analysis for Blood Stem Cell Transplants: Implications for Immune System Health

2024-03-19 07:37:05

For many types of blood cancer, a blood stem cell transplant is the only chance for a cure. The diseased person’s degenerated blood stem cells are first eliminated and the immune system is then rebuilt using stem cells from a donor.

To ensure that the new immune system does not turn once morest the recipient’s body, a number of tissue characteristics must match between the recipient and the donor. This is examined as standard. A research team led by Prof. Dr. Petr Hrúz from Clarunis (University Abdominal Center Basel) and Prof. Dr. Mike Recher from the University of Basel and the University Hospital of Basel now shows that a more comprehensive genetic analysis would also make sense.

In the “Journal of Clinical Immunology” the team describes the case of a man who developed chronic inflammatory bowel disease (Crohn’s disease) five years following a leukemia and blood stem cell transplant. Genetic analysis revealed that the donor’s blood stem cells were transplanted with a mutation that affects the function of a factor called TIM-3, an important regulator of the immune system. However, the donor was and is as far as can be seen healthy.

Different body, different consequences

“We know of cases in which the carrier of a mutation does not develop any symptoms, while blood relatives with the same mutation, for example, become ill,” says immunologist Mike Recher. Why such differences occur is currently being intensively investigated. The researchers suspect that, for example, severe infections or other environmental influences such as immune-weakening drugs might be the trigger for a previously unnoticed mutation to affect health.

The gene change, which did not cause any problems in the donor, apparently triggered a dysregulation of the immune system in the recipient’s body. The result was an autoimmune reaction and ultimately chronic inflammatory bowel disease.

Additional information

According to researchers, it is difficult to estimate how many people unnoticed carry mutations that affect the immune system. In total, the number of genes relevant to the immune system is estimated to be up to 4,000. “In view of the greatly reduced costs for DNA sequencing, it would be advisable to examine blood stem cells for known mutations relating to the blood and immune system before transplantation,” says Recher. If several donors were considered in terms of tissue compatibility, the person without a potentially problematic mutation might be selected.

Additional information

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#Inflammatory #bowel #disease #stem #cell #transplantation #University #Basel

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