Why it matters
The new study explains a longstanding puzzle in medicine: why do some people who’ve inherited a disease-causing mutation experience fewer symptoms than others with the same mutation? “In many diseases, we’ll see that 90% of people who carry a mutation are sick, but 10% who carry the mutation don’t get sick at all,” says Bogunovic, a scientist who studies children with rare immunological disorders at Columbia University Irving Medical Center.
Enlisting an international team of collaborators, the researchers looked at several families with different genetic disorders affecting their immune systems. In each case, the disease-causing copy was more likely to be active in sick patients and suppressed in healthy relatives who had inherited the same genes.
