Genetic mutation linked to risk of infection

Researchers in France have published new findings that support the idea that alterations in a single gene can make people susceptible to certain infections. Their work suggests a new approach to treating potentially deadly cases of brain inflammation. The scientists from the Howard Hughes Medical Institute and the Necker Medical School in Paris reported on two patients who shared a genetic mutation and a susceptibility to herpes simplex encephalitis, which infects 80 percent of adults. In the vast majority of cases the symptoms are mild, but in some cases victims suffer potentially lethal inflammation of the brain.

Researchers began to hypothesize several years ago that victims of inflammation may be genetically exposed to the condition. Without a common family history of the disease, though, the researchers had to dig deeper, and found that people who had parents who were blood relatives were more likely to have two copies of a faulty gene. In one case, researchers found the patient was unable to produce type I interferon, an immune signaling molecule that left him susceptible to infections. That patient and later a second patient were found to have two copies of the mutated UNC93B gene. Their work suggests that in the future inflammation victims may be given type I interferon along with standard therapy to replace the immune signaling molecule that their bodies lack.

- read this article on the mutation from eMaxHealth