Several Down syndrome features may be linked to a hyperactive antiviral immune response – new research

• In the early 1900s, less than 20% of newborns with Down syndrome survived past age 5.
• In the U.S. today, more than 90% of babies with this condition live past age 10 and have a life expectancy of nearly 60 years.
• On the other hand, people with Down syndrome tend to have lower levels of hypertension and certain types of cancers.

When too much of a good thing is bad

• While interferons do trigger a beneficial immune response against viral infections, chronic interferon hyperactivity could have detrimental effects.
• Notably, four of the six human interferon receptor genes are located on chromosome 21.
• Because people with Down syndrome have three copies of chromosome 21, they also have three copies of the interferon receptor genes on it.
• Overall, our findings suggest that the tripling of interferon receptor genes may cause a number of key traits of Down syndrome.

Therapeutic implications and future directions

• It also supports the possibility of using drugs that attenuate this response to treat some of the negative health effects of trisomy 21.
• Our team is currently leading two clinical trials to test the safety and efficacy of one such drug, tofacitinib (Xeljanz).
• This drug belongs to a class of drugs known as JAK inhibitors used to treat autoinflammatory conditions.