2 documents found, page 1 of 1
Characterization of human disease phenotypes associated with mutations in TREX1...
Crow, Y; Chase, D; Schmidt, J; Szynkiewicz, M; Forte, G; Gornall, H; Figueiredo, A, et al.Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74 patients; 22.8% of all patients where data were available)...
Gain-of-Function Mutations in IFIH1 Cause a Spectrum of Human Disease Phenotype...
Rice, G; Toro Duany, Y; Jenkinson, E; Forte, G; Anderson, B; Ariaudo, G; Bader-Meunier, B; Baildam, E; Battini, R; Beresford, M; Casarano, MThe type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demo...