Some people suffer from autoimmune diseases that do not match standard medical categories. Their symptoms are real, but doctors often struggle to find a clear cause. A new look at genetic data suggests a specific gene problem might be the answer for many of these patients. This gene, called TNFAIP3, helps control the immune system. When it does not work right, the body can attack itself.
Researchers looked at data from thousands of people to find how common these gene changes are. They found that a specific type of change in this gene occurs in about one in 2,800 people in the United States. Globally, the rate is about one in 4,900. These changes can lead to conditions like A20 haploinsufficiency, which is a type of inborn error of immunity. This means the immune system fails to stop attacking healthy tissue.
The study also found that some gene changes cause milder immune problems. These intermediate issues might explain why some patients have symptoms that look like common autoimmune diseases but do not respond to standard treatments. Doctors should consider genetic testing for patients with early-onset or treatment-refractory autoimmune disease. This could help them find the right path to care.
However, this condition is often underdiagnosed. The symptoms can be very different from person to person, making it hard to spot. Knowing this gene exists helps doctors look harder for it in patients who have been told they have no clear diagnosis.