How vexas syndrome tricks the immune system

Imagine if some of your body’s cells started acting out and causing trouble for the rest. That’s a bit like what happens in VEXAS syndrome, a rare and newly discovered disease that scientists are racing to understand. Let’s explore what makes VEXAS so unusual, how it affects people, and why these discoveries are important for everyone interested in health, science, and the future of medicine.

What is VEXAS syndrome?

VEXAS stands for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome. That’s a mouthful, but it really means a disease caused by a change (mutation) in a single gene called UBA1. This mutation doesn’t happen when you’re born—it shows up later in life, in some of the cells that make your blood. These cells go on to create lots of copies of themselves, spreading the mutated gene throughout your bloodstream. The result? The immune system gets confused and starts causing inflammation all over the body. This can lead to fevers, rashes, painful joints, and a higher risk for blood clots.

How mutated cells take over

One of the biggest mysteries about VEXAS was why these mutated blood cells become so common and crowd out healthy cells. New research, like the study from Molteni and colleagues in Nature Medicine, has shown that inflammation actually helps these mutated cells become more powerful. Normally, inflammation is your body’s way of fighting infections, but in VEXAS, it’s like giving the trouble-making cells an extra boost. The mutated cells survive better and keep growing, which increases the inflammation even more—a vicious cycle!

The science of inflammation and immunity

VEXAS is part of a bigger group called autoinflammatory diseases. Scientists, including Manthiram and colleagues in their study in Nature Immunology, have learned that these diseases teach us important lessons about how the body’s first line of defense, called innate immunity, works. In autoinflammatory diseases, this system gets triggered by mistakes in our genes or how our cells behave, not by outside invaders like germs. VEXAS is unique because the gene mistake happens only in some cells and later in life, not from birth like in many other rare diseases.

What it means for patients

For people living with VEXAS syndrome, the symptoms can be severe and sometimes life-threatening. Doctors have tried many treatments, and a study by Hadjadj and colleagues in Annals of the Rheumatic Diseases found that targeted therapies can help some patients, but there’s still a lot to learn. Since VEXAS is so new, diagnosis can be tricky, and patients often see many doctors before getting answers. Research like this gives hope for better treatments and maybe even ways to stop the disease early.

How this research helps everyone

Understanding VEXAS syndrome doesn’t just help a small group of people—it helps us all learn more about how inflammation and our immune system work. For example, scientists found in a 2024 Nature Communications paper that VEXAS involves overactive immune cells called monocytes, which also play a role in other diseases. By figuring out how mutant cells take over in VEXAS, we can discover new ways to treat or prevent similar problems in other illnesses, from arthritis to more common inflammatory conditions.

Living with inflammation: More than just VEXAS

VEXAS isn’t the only disease driven by chronic inflammation. For more on how inflammation can affect your whole body, you might enjoy reading about psoriasis and the science behind it in this SlothMD article on chronic inflammation. Keeping inflammation in check is important not just for rare diseases, but for healthy aging, muscle strength, and feeling your best every day. If you’re curious how muscle power connects to long-term health, check out the SlothMD guide to building muscle power as you age.

The future: How health AI and new discoveries are changing care

Thanks to advanced health AI tools and improved genetic testing, rare diseases like VEXAS can be spotted earlier and treated more precisely. As scientists and doctors work together, we’re learning how to turn these discoveries into real help for patients. Stay tuned as researchers continue to unlock the secrets of the immune system and help people everywhere live healthier lives.