A new study from the Garvan Institute of Medical Research has uncovered a crucial connection between gene variants linked to leukemia and the development of autoimmune diseases. This discovery helps explain why some people with leukemia also suffer from autoimmune conditions, and it could lead to more targeted and effective treatments.
The researchers focused on a key part of the immune system: killer T cells. These cells are supposed to protect the body by destroying infected or cancerous cells.
But the study showed that when certain genetic changes occur—especially involving a protein called STAT3—these T cells can go rogue. Instead of defending the body, they start attacking healthy tissues, causing autoimmune diseases.
This link between leukemia and autoimmune diseases has puzzled doctors for years. People with leukemia often develop autoimmune problems like rheumatoid arthritis or aplastic anemia. This new research shows that some of the same gene changes that help leukemia grow can also cause the immune system to turn against the body.
The protein STAT3 plays a big role in this process. It helps control how immune cells grow and function. But when the gene that makes STAT3 is mutated, it causes T cells to grow too much and behave abnormally. These rogue T cells become large, aggressive, and ignore the normal rules that stop immune cells from attacking the body itself.
The researchers found that it doesn’t take many of these rogue cells to cause damage. Even if just 1–2% of the T cells in the body go rogue, it can be enough to start an autoimmune response.
To make these discoveries, the team used advanced tools to study blood samples from children with rare inherited autoimmune diseases. They also used the powerful CRISPR gene-editing tool to alter the STAT3 gene in mice, which helped them understand exactly how the rogue cells form and behave.
The findings could have a big impact on how autoimmune diseases are treated. Now that scientists know which mutations lead to rogue T cells, they can look for medications that target these specific cells. One group of drugs called JAK inhibitors is already approved for use in Australia and may work better when doctors know exactly which gene changes a patient has.
The research also uncovered two cell receptor systems linked to stress responses that might help explain how these diseases develop. This could lead to new screening tools that allow doctors to study every single cell in a blood sample and identify which ones could become dangerous.
This study, led by Dr. Etienne Masle-Farquhar and published in the journal Immunity, gives new insight into how cancers and autoimmune diseases are connected at the genetic level. It opens the door to more accurate diagnoses, better treatments, and even ways to prevent these conditions before they start.
As research continues, this new understanding of rogue T cells and the STAT3 gene may lead to life-changing therapies for people at risk of both leukemia and autoimmune diseases.
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