Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2

ConclusionOur data indicate an impaired negative regulatory role of STAT2 p.(A219V) in IFN-I signalling and that mutations in STAT2 resulting in a type I interferonopathy state are not limited to the previously reported R148 residue. Indeed, structural modelling highlights at least 3 further residues critical to mediating a STAT2-USP18 interaction, in which mutations might be expected to result in defective negative feedback regulation of IFN-I signalling.
Source: Journal of Clinical Immunology - Category: Allergy & Immunology Source Type: research