In Just Three Months, Immunotherapy Cured a New Genetic Mutation

Curing an Immunodeficiency

Immunotherapy is a type of cancer treatment that attacks cancer cells by using the body's own immune system. It does this by either boosting the body's immune system or by equipping it with new proteins that help combat the cancer cells.

Researchers from both the Department of Biomedicine of the University of Basel and University Hospital Basel have utilized immunotherapy to cure a disease caused by a genetic mutation. Prof. Mike Recher and his team from the Department of Biomedicine of the University of Basel recently identified a genetic mutation that causes chronic autoimmune enteritis or the inflammation of the intestinal walls.

The mutation is caused by a non-functioning protein on the surface of the T-cells in a patient. T-cells are a type of white blood cell responsible for scanning the body for infections and foreign objects. The protein, identified as CTLA-4, usually blocks the adhesion of T-cells in the body's own cells, preventing it from identifying the body as a foreign object and attacking it. The autoimmune enteritis identified in the study however, causes the CTLA-4 to not function properly, which makes the immune system attack the intestinal walls, causing severe diarrhea and weight loss.

Applications in Cancer Treatment

With the cooperation of University Hospital Basel's gastroenterology department, the patient was given a new drug called Vedolizumab. This drug prevents a specific adhesion molecule on the T-cell, thereby preventing it from sticking on the intestinal walls of the patient. Within three months, the patient's diarrhea stopped.

This treatment could be used to help prevent a side effect caused by melanoma (skin cancer) treatments. The drug for this (Ipilimumab) inhibits CTLA-4 in a similar fashion, making the immune system work harder to attack the cancer cells, but causes the same side effects as the autoimmune enteritis.

The study sheds light onto the importance of identifying specific molecules that cause a disease and applying this to create a patient-specific treatment. Recher says this requires the close cooperation between research laboratories and university hospitals.