Researchers at the University of Colorado Anschutz Medical Campus have uncovered a never-before discovered immunodeficiency disease.

How It Came About

It started with a newborn boy who had a myriad of diagnoses already. He was diagnosed with eczema, a cytomegalovirus infection, lung disease, and inflammatory bowel disease among other issues. However, there was clearly something else wrong. A multitude of therapies were tried in attempt to ease his persistent gut inflammation but nothing seemed to work. The only thing he could eat was a specialized formula.

His sister had similar symptoms.

It appeared that the siblings both had an immune dysregulation syndrome which can cause recurrent and serious infections. These conditions also result in inflammatory complications within the blood, lungs, gastrointestinal tract, and skin. Patients with an immune dysregulation syndrome also have an increased cancer risk.

However, after a thorough investigation, the researchers found that the siblings condition could actually be tracked down to a single gene. The mutation in which had never before been documented in another patient. The gene is called IL2RB. A defective IL2RB gene leads to a reduction of T cells, a form of immune cell which prevents autoimmunity.

The mutation caused the natural killer cells in the children to not mature properly. Normally, these cells protect the body against viral infections as well as cancer. But the accumulation of these malfunctioning cells in the siblings caused them to be unable to rid their body of the cytomegalovirus. As a result, they were dealing with a persistent infection.

So are these the only two children in the world with this gene mutation? Probably not. While it’s clear this condition is rare, there are most likely other individuals with the mutation who simply are not diagnosed. But, now that the researchers know what to look for, a diagnosis can hopefully be provided to other patients who have been living with this debilitating mystery.

The novel findings of this new mutation have been published in The Journal of Experimental Medicine. 

Potential Treatments

It’s amazing that the cause of these children’s complications has been uncovered. They finally have an answer to their pain. But, what about treating this new diagnosis?

Researchers believe that this gene mutation has the potential to be treated with gene therapy.

Essentially, gene therapy works by correcting a defective gene, effectively treating the root cause of a disease. Of course, for gene therapy to be possible, the exact gene that is causing the disease has to be identified. Recently, advanced research into various forms of immunodeficiency have indicated the exact genetic cause of some of these conditions. This has made the outlook of gene therapy look promising for this group of rare diseases. For instance, a recent study utilized gene therapy for Severe Combined Immunodeficiency, which is caused by IL2RG mutations.

Hopefully, this same outcome will be possible for this new form of immunodeficiency.

You can read more about this new discovery here.