Interferonopathies reflect a newly recognised entity with increased type I interferon levels and overlapping phenotypes.

In the attached review, we focus on the most recent discoveries of the genetic basis and pathomechanism of interferonopathies associated with mutations in RIG-I like cytoplasmic receptors for double stranded RNA.

Mutations in IFIH1 and DDX58 lead to typical and atypical Singleton-Merten syndrome which show a considerable overlap with Aicardi-Goutières syndrome.