In a new study, researchers have discovered a new human disease in an infant.
The disease is an immunodeficiency disease caused by a novel genetic mutation.
The research was conducted by researchers at the University of Colorado Anschutz Medical Campus.
In the study, the team found that an infant was suffering from inflammatory bowel disease along with other conditions including eczema, food allergies, lung disease, and persistent infection.
The baby could not eat any food and his gut inflammation persisted despite numerous therapies.
They found the young boy’s sister suffered from similar problems, and their collective symptoms were in line with an immune dysregulation syndrome.
Patients with these syndromes have poorly functioning immune systems which can result in serious, recurrent, or unusual infections, as well as autoimmune complications.
Their gastrointestinal tract, skin, lungs, and circulating blood cells can be affected.
This dysregulated immune system may also increase the risk of cancer.
The team found that the siblings had the first known human defect in a gene called IL2RB, which reduce the numbers of immune cells called regulatory T cells.
The children also had an accumulation of ‘natural killer’ cells that help protect against viral infections and cancer.
However, the gene meant the natural killer cells could not mature properly, which results in persistent and debilitating infection.
This study is the first documented cases of this particular gene mutation leading to human disease.
The team suggests that the disease may have been missed in other children.
They believe the defect could be treated through gene therapy. Scientists could feasibly go in, manipulate the gene, and get it back in the right sequence.
One author of the study is Cullen Dutmer, MD, an assistant professor of pediatrics specializing in allergy and immunology.
The study is published in The Journal of Experimental Medicine.
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