MAY 07, 2019 02:53 PM PDT

Siblings lead Researchers to Discover New Immunodeficiency Disease

WRITTEN BY: Tiffany Dazet

An infant was suffering from inflammatory bowel disease, eczema, food allergies, lung disease, and persistent cytomegalovirus (CMV) infection. His older sister was experiencing similar problems. The scientific investigation of their cases led researchers from the University of Colorado Anschutz Medical Campus to discover a new immunodeficiency disease that is caused by a single genetic mutation. Their findings were published last week in The Journal of Experimental Medicine.

The siblings’ symptoms were consistent with an immune dysregulation syndrome, which can lead to an increased cancer risk. Upon closer examination, researchers discovered a defect in a gene called IL2RB (encoding interleukin-2 receptor beta, IL-2R?), which causes a decrease in the number of immune cells (regulatory T cells) that prevent autoimmunity. These two children are the first known humans to have this genetic defect. 

Image via JEM

In addition to a decreased number of regulatory T cells, the siblings also had an accumulation of “natural killer” cells. When functioning correctly, natural killer cells protect against viral infections and cancer. However, in a press release from the University of Colorado medical campus, co-author Elena Hsieh, MD explains that “the mutation meant that the natural killer cells were incapable of maturing properly and could not clear CMV, resulting in persistent and debilitating infection.”

Hsieh emphasizes the rarity of tracking down a disease to a single gene; especially since there were not any documented cases of mutations in this gene that can lead to human disease. Co-author Cullen Dutmer, MD believes that others may likely suffer from this condition, but it hasn’t been identified. In the press release he states that “although clearly a rare disease, it has likely been missed in other children. Now that it is out there, we know to look for it.”

Researchers are hopeful that this genetic defect can be treated with gene therapy. Co-author Ross Kedl, Ph.D., suggests that “we could feasibly go in, manipulate the gene, and get it back in the right sequence.” Gene therapy is becoming a more viable treatment option with recent advances in identifying genetic causes of immunodeficiency diseases. Dutmer and Hsieh are hopeful that once a genetic cause is identified “that would allow for therapeutic interventions that are uniquely tailored to meet the need of the individuals.”

Sources: Journal of Experimental Medicine, CU Anschutz Today, Science Daily
 

About the Author
  • Enthusiastic science geek passionate about wildlife, wild places, and environmental issues. With 13 years of science writing under her belt, Tiffany hopes to educate and inspire the public to protect our planet.
You May Also Like
JUN 18, 2019
Cardiology
JUN 18, 2019
Despite Healthier Lifestyle Urban Cyclists Exposed To High Levels Of Air Pollution
Incorporating fitness into your daily commute is one of the healthiest things you can do for your heart. This can be done in several ways from walking to w...
JUN 18, 2019
Cancer
JUN 18, 2019
How the Affordable Care Act Impacts Some Cancer Treatments
The 2010 Affordable Care Act (ACA), AKA “Obamacare”, expanded insurance coverage in several ways. The health law has likely had some modest eff...
JUN 18, 2019
Genetics & Genomics
JUN 18, 2019
The Genetics Underlying a Tanning Addiction
Indoor tanning increases the risk of skin cancer, but every year, nearly 8 million adults still use tanning beds....
JUN 18, 2019
Microbiology
JUN 18, 2019
Tracking the Source of Bacteria in a Microbiome
There are trillions of microbes in the human microbiome, which has been linked to a wide array of health conditions....
JUN 18, 2019
Cell & Molecular Biology
JUN 18, 2019
Scientists Discover Why Arteries Harden & Find a Potential Treatment
As we get older, our arteries slowly begin to stiffen and then harden, which can lead to many serious complications. Now there may be a way to treat it....
JUN 18, 2019
Microbiology
JUN 18, 2019
Chemicals Made by Bacteria May Open a New Diagnostic Route
Clinicians may one day be able to analyze gut health by assessing the chemicals produced by the microbes that live there....
Loading Comments...