Researchers at a University of Colorado Anschutz Medical Campus have just discovered a new immunodeficiency disease as they carry out studies on an infant boy who was suffering from inflammatory bowel disease as well as other conditions such as; eczema, food allergies, lung disease, and persistent CMV (cytomegalovirus) infection. The young boy was unable to eat anything as the gut inflammation persisted despite the various therapies.
After a diagnosis, it was revealed that the boy’s sister also suffered from the same condition and it was concluded that their symptoms were consistent with an immune dysregulation syndrome. Patients that suffer from this have immune systems that function poorly leading to a host of infections as well as inflammatory complications that may affect the gastrointestinal tract, skin, lungs, and circulating blood cells.
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The research conducted found out that the siblings had the first known human defect in a gene called IL2RB, and this would result in decreased numbers of immune cells called regulatory T cells which prevent autoimmunity. They also found out that the children had an accumulation of ‘natural killer’ cells which, if functioning normally, help protect against viral infections and even cancer. However, the natural killer cells were incapable of maturing leading to “persistent and debilitating infection,” as stated by the study’s co-author Elena Hsieh, a medical doctor and assistant professor of paediatrics and microbiology, immunology at the CU School of Medicine and CHCO. Further confirming this discovery, she said; “We tracked this disease down to a single gene and that is a fairly rare event,” Hsieh said. “Prior to our findings, there had been no documented cases of a mutation in this particular gene leading to human disease.”
The discoveries have been published in The Journal of Experimental Medicine.
Source: University of Colorado Anschutz medical campus.
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