Human genetic vulnerabilities may underlie infectious diseases, scientist argues

The talk, titled "Inborn Errors of Innate Immunity in Humans," was presented at AAAS's symposium on innate immunity at 1:50 p.m. in Room 5A at the San Diego Convention Center.

Drawing from his most recent work on invasive pneumococcal disease and herpes simplex encephalitis, Casanova presented evidence that infectious diseases in the general population depend to a large extent on underlying genetic vulnerabilities. While microbes are required for infection, he says, one's genetic background could make the difference between fighting an infection and succumbing to it.

"Individual patients lacking one or another molecular component of innate immunity are highly vulnerable to a narrow range of microbes," says Casanova. "We try to describe individual mutations and specific components in innate immunity that either confer resistance or susceptibility to a specific microbe or genus."

The idea that infectious diseases may develop because of genetic vulnerabilities has encountered some resistance in the field of microbiology, which asserts that infectious diseases are strictly environmental, and among immunologists, who are uncomfortable with the possibility that certain immunological molecules merely target a narrow range of microbes.

"Our goal is to put these conflicting theories into a unified conceptual framework for exploring the molecular genetic basis of infectious diseases in humans," says Casanova. "It will lead to a more informed and precise approach to treating infections."