Research opportunities

Monogenic interferonopathies are genetic, which means they are caused by a change in a gene. This gene change can sometimes be passed down from a parent, but not always.

There are a few ways that the faulty gene can arise:

• Inherited from a parent: In some cases, a child gets the changed gene from one or both parents, even if the parents don’t have any symptoms themselves.
• New (spontaneous) mutation: Sometimes, the gene change happens by chance in the child, and neither parent has it. This is called a de novo (new) mutation.

Genetic testing can help find out where the change came from and whether other family members might be affected or carriers.

Monogenic interferonopathies are very rare conditions. Only a small number of children around the world are known to have one.

These conditions may affect as few as 1 in 100,000 to 1 in a million children. Some types, like Aicardi–Goutières syndrome (AGS), have only a few hundred known cases worldwide. SAVI syndrome may be even rarer although because symptoms can be confused with other illnesses, some cases probably go undiagnosed, so the actual number may be higher. 

Because these conditions are so rare — and their symptoms can look like other diseases — some children may not get the right diagnosis right away. That means the real number of affected children could be a little higher than we currently know.

Even though very few people have these conditions, the research being done to understand and treat them can help with other, more common diseases too — like lupus, severe COVID-19, and certain kinds of arthritis in children.

A monogenic interferonopathy is a rare condition that is present from birth and typically presents in infancy. It happens because of a change in one important gene (that’s what “monogenic” means).

This gene change causes the immune system, the body’s defence system, to make too much of a protein called interferon. Interferon is supposed to help protect us from viruses and infections, but in this condition, the body makes too much of it which can lead to problems like inflammation in the brain, skin, lungs, or other parts of the body. Symptoms often begin in early childhood. Doctors and scientists are working to find better treatments, including medicines that calm the immune system or block the faulty gene.