Pursuing an education can be difficult enough without any other extraneous factors. But what if you were also battling frequent infections, gastrointestinal problems, and recurrent hospitalizations? For Evan Brandon, this was his reality throughout high school and when he got to Princeton University. Eventually, shares KSAT, his medical struggles caused Evan to take some time off from his studies. Now, despite his continued health issues, Evan has contributed to something even larger than himself: the discovery of a potentially new genetic disease called INFILTR8. 

INFILTR8

After some research and testing, doctors diagnosed Evan with a new rare disease. Caused by TLR8 gene mutations, INFILTR8 causes an inappropriate and overactive inflammatory response within the body. These mutations cause the immune system to activate at odd or inappropriate times, leading to high levels of inflammation; in fact, the I in INFILTR8 stands for inflammation.

Evan actually came up with the name INFILTR8, with each letter having a specific meaning. N is for neutropenia, or deficient or missing neutrophils in the blood. Normally, neutrophils play a role in immune response and help attack foreign invaders. However, due to the high inflammation caused by INFILTR8, the immune cells are greatly reduced. F stands for “failure” – bone marrow failure, specifically – and L for “lympho proliferation.” 

After receiving bone marrow transplantation, Evan is doing well. He is just 1 of 6 people diagnosed with INFILTR8 to this day. As of right now, all of those diagnosed are male. However, due to the small sample size, researchers are not sure if this condition also affects females. 

More research is warranted, both to learn about INFILTR8 as a whole, and to determine how to best address and help these patients. Hopefully, researchers can help any patients who may have been misdiagnosed or whose condition has not yet been recognized.