Article
[When to consider type I interferonopathy in adulthood?]
La Revue de medecine interne - 1 Jun 2022
David C, Frémond M-L
Abstract excerpt
Type I interferonopathies (IP1) are a heterogeneous group of Mendelian diseases characterized by overactivation of the type I interferon (IFN) pathway. They are caused by monogenic (rarely digenic) mutations of proteins involved in this key pathway of innate immunity. IP1 transmission can be dominant, recessive or X-linked and penetrance differs from one IP1 to another. The clinical spectrum is broad and mainly...
Topics
- Adult
- Autoimmune Diseases
- Calcinosis
- Humans
- Interferon Type I
- Mutation
