RIG-I-Like Receptor Signaling in Singleton-Merten Syndrome
Singleton-Merten syndrome (SMS) is an autosomal dominant, multi-system innate immune disorder characterized by early and severe aortic and valvular calcification, dental and skeletal abnormalities, psoriasis, glaucoma, and other varying clinical findings.Recently we identified a specific gain-of-function mutation in IFIH1, interferon induced Belts