Scientists from the Garvan Institute of Medical Research have discovered that certain gene changes linked to leukemia may also lead to the development of autoimmune diseases.
The study shows how tiny mutations in our genes can cause immune cells to behave abnormally and attack the body, revealing a shared connection between cancer and autoimmune conditions.
Doctors have long observed that some leukemia patients also suffer from autoimmune diseases like rheumatoid arthritis or aplastic anemia. Until now, the reasons behind this overlap weren’t fully understood.
This new research uncovers how gene mutations can change the behavior of killer T cells—important immune cells that usually help defend the body by destroying viruses, infected cells, and even cancer cells.
Killer T cells are like the body’s internal security team. But the study found that when certain genetic changes happen, these T cells can become “rogue”—they grow too large, escape the body’s safety checks, and start attacking healthy cells. This type of attack is what leads to autoimmune diseases, where the body mistakenly targets itself instead of harmful invaders.
To find out more, the researchers looked at blood samples from children with rare inherited autoimmune diseases. Using advanced screening tools, they were able to study the immune cells in great detail. They also used a gene-editing technique called CRISPR/Cas9 in mice to see what happens when specific genes are altered.
The key protein in question is called STAT3. It’s found in many types of cells and plays a major role in the immune system, especially in controlling T cells and B cells. When STAT3 is mutated, it can cause killer T cells to multiply too much and ignore the normal controls that prevent them from harming the body.
Even a small number of these misbehaving cells—just 1 to 2 percent—can be enough to cause serious autoimmune problems.
This discovery helps explain why some people develop both cancer and autoimmune conditions. It shows that the same genetic mutation might make the immune system too weak to fight off cancer, and at the same time too aggressive in attacking the body’s own cells.
The study also points to possible new treatments. Medications like JAK inhibitors, which are already approved in Australia and other countries, might be more effective if doctors can identify patients with these specific genetic mutations. This would allow for more personalized treatment, targeting the root of the problem in each individual.
Another exciting possibility from this research is better screening. The scientists hope to develop tools that could scan every cell in a person’s blood to find out which ones are going rogue before they cause disease. This could lead to earlier diagnosis and better prevention for both leukemia and autoimmune conditions.
This study, led by Dr. Etienne Masle-Farquhar and published in the journal Immunity, adds a new piece to the puzzle of how our immune system works—and sometimes turns against us. It opens the door to smarter treatments and better understanding of two major groups of diseases that affect millions of people worldwide.
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