WEDNESDAY, SEPTEMBER 28, 2016

Study finds new genetic immune disorder

Scientists discover new genetic immune disorder | Courtesy of huffingtonpost.com

A team of scientists whose research was funded with the National Institutes of Health's (NIH) National Institute of Allergy and Diseases (NIAID) discovered a new immune disorder that causes DOCK2, a specific gene, to mutate and cause DOCK2 deficiency, the NIH said Wednesday.

The researchers studied one girl and four boys with DOCK2 deficiency. All of the children had different ethnic backgrounds and had started to report symptoms of debilitating infections when they were still young. Physicians diagnosed them with combined immunodeficiency (CID), which includes a class of inherited disorders that cause various defects in T cells, or immune system cells. CIDs can also impact the immune system’s other cells, such as B cells.

The scientists sequenced the children’s genomes to find mutations in DOCK2, a specific gene, and deduced that this mutation causes a specific kind of CID. The laboratory tests showed that T cells as well as B cells taken from the children showed limited movements when responding to infection-related stimuli. These cells also showed limited anti-viral responses to other cell kinds.

This study, which shows how vital DOCK2 is for the healthy functioning of the immune system, is important in that it could help researchers understand common immune system disorders as well as the human body’s response to infections.

Organizations in this story

National Institute of Allergy and Infectious Diseases (NIAID) 5601 Fishers Lane, MSC 9806 Bethesda, MD 20892-9806

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