IFIH1-related type 1 interferonopathy refers to a group of conditions caused by variations in the IFIH1 gene. This gene change affects the body’s type 1 interferon pathway, which plays a role in the immune response. As a result, people with this condition may experience a range of effects related to immune system activity. Individuals with this variant in the IFIH1 gene can show different clinical pictures, with some features overlapping with conditions such as Aicardi-Goutières syndrome and Singleton-Merten syndrome. This means that the signs and symptoms may vary widely among affected people, and the condition may look different from one person to another.

Information about symptoms is currently limited for this condition.

This condition is caused by a variation in the IFIH1 gene. Changes in this gene can lead to an abnormal activation of the type 1 interferon pathway. Variations in the gene can be associated with features seen in conditions such as Aicardi-Goutières syndrome and Singleton-Merten syndrome. Associated genes include IFIH1.