A new study from the Garvan Institute of Medical Research has found that certain gene variants linked to leukemia may also create “rogue” immune cells that can lead to autoimmune diseases. This discovery could help explain why some people develop both conditions and may open the door to better treatments.
Leukemia is a type of cancer that affects the blood and bone marrow, while autoimmune diseases happen when the body’s immune system mistakenly attacks its own healthy cells.
Until now, researchers had noticed that people with leukemia were more likely than others to also develop autoimmune diseases such as rheumatoid arthritis or aplastic anemia. This new study helps to explain why that happens.
The scientists focused on a type of immune cell called a killer T cell. These cells are normally responsible for finding and destroying viruses, cancer cells, and other harmful threats. But in this study, researchers found that gene changes can cause these killer T cells to go rogue. Instead of protecting the body, they start attacking it.
A key discovery in the study involved a protein called STAT3. This protein helps control how T cells and B cells (another type of immune cell) grow and behave. The researchers used a powerful gene editing tool called CRISPR/Cas9 to change STAT3 in mice, and they studied blood samples from children with rare inherited autoimmune diseases.
They found that when STAT3 is altered by certain gene mutations, killer T cells can grow out of control. These rogue cells become larger and more aggressive.
They are also able to avoid the usual checks and balances that keep the immune system from harming the body. Even if only 1–2% of a person’s T cells are rogue, that small number can be enough to trigger an autoimmune disease.
The study also uncovered two cell receptor systems that appear to be linked to stress signals. These systems help cells communicate, and when they are affected by mutations, they may also play a role in allowing T cells to turn rogue.
These findings offer important clues not just about how autoimmune diseases start, but also about how to stop them.
Since some drugs, like JAK inhibitors (already approved by Australia’s TGA and other drug agencies), can target similar immune pathways, the researchers believe these medications might one day be used more effectively in people who have these specific gene mutations.
Another potential benefit of this research is better screening. The team hopes that in the future, doctors might be able to analyze the full genetic makeup of every cell in a blood sample. This could help identify rogue cells early, before they cause serious damage, and allow for more personalized treatment.
The study, led by Dr. Etienne Masle-Farquhar and published in the journal Immunity, sheds light on the shared roots of cancer and autoimmune disease. It suggests that a single change in how the immune system works can lead to very different—but equally serious—health problems.
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