Most researchers like to say that their work is “groundbreaking” or “revolutionary.” And most reporters—whether print or digital—like to use those words too, because they help get people’s attention.

But how often do these reports actually point to something that adds intrinsic value to our understanding of a disease or our approach to treating it?

That’s a tough call to make, because it can take literally years to determine just how or if a discovery will have a lasting impact. But it’s a probably a very good sign when the director of the National Institutes of Health (NIH) blogs about your research!

In a blog post from March 29^th, NIH Director Dr. Francis Collins wrote about the results of an NIH-funded research project that successfully identified the specific genetic mutation that causes a common variable immunodeficiency (CVID) subtype.

People with this particular type of CVID are missing immune cells used in producing antibodies.

Until recently doctors weren’t sure why; they knew only that these patients had fewer B cells—a component used to create antibodies—and there was a strong genetic component.

Recently, researcher Mary Ellen Conley looked at blood and DNA samples from a mother and son who were the only ones in their family to exhibit CVID-like symptoms and low B cell counts.

She theorized that a new mutation had occurred between mother and son.

Further research and gene testing revealed a defective copy of the IKAROS gene, which plays a role in healthy B cell development. Conley worked with a PID research team at NIH, and another at the University of Utah, to identify and sequence the genomes of other families sharing similar genetic characteristics.

The upshot of all this is that the NIH has been able to conclusively identify this subtype and give it its own distinct name: IKAROS deficiency.

That doesn’t mean much from a treatment standpoint—patients still need immunoglobulin infusions to help guard their immune systems from infection.

What it does mean though, is that we now have a new chapter in our understanding of immune system disorders, which brings us ever closer to giving people with PIDs the absolute best care possible.

Check out the full blog to read about IKAROS research. Then visit the NIH’s Primary Immune Deficiency Clinic page to learn about other ongoing research projects!