Scientists at the Garvan Institute of Medical Research have discovered that certain gene variations associated with leukemia can lead to “rogue” immune cells, which may cause autoimmune diseases. This finding helps explain why leukemia patients often develop autoimmune conditions such as rheumatoid arthritis or aplastic anemia.
The study focused on killer T cells, a type of immune cell responsible for destroying harmful invaders and abnormal cells. Researchers found that changes in a specific protein that regulates these cells can make them grow uncontrollably and attack the body’s own tissues. This provides new insights into how leukemia and autoimmune diseases are connected.
In a healthy immune system, T cells help protect the body by identifying and eliminating threats like viruses and cancer cells. However, when these cells malfunction, they can either fail to stop cancer growth or mistakenly attack healthy cells, leading to autoimmune diseases.
To investigate this, scientists used advanced screening methods to study blood samples from children with rare inherited autoimmune diseases. They then used CRISPR/Cas9, a gene-editing tool, to modify a protein called STAT3 in mouse models. STAT3 is crucial for regulating immune cells, including B cells and T cells.
The study revealed that when STAT3 is altered, it can cause killer T cells to become overly active, growing larger and bypassing immune checkpoints. Even a small percentage of rogue T cells—just 1-2%—could trigger an autoimmune disease.
This discovery may help improve treatments by allowing doctors to better target medications, such as JAK inhibitors, based on a patient’s genetic makeup. The study also identified two cell receptor systems linked to stress, which could further influence immune responses.
In the future, this research may lead to new screening methods that allow doctors to analyze a blood sample and detect rogue immune cells before they cause disease. By sequencing the genome of each cell, scientists hope to identify potential risks early and develop more precise treatments.
The study was led by Dr. Etienne Masle-Farquhar and published in the journal Immunity.
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