Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

@inproceedings{Rice2014GainoffunctionMI,
  title={Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling},
  author={Gillian I Rice and Yoandris del Toro Duany and E M Jenkinson and Gabriella M. A. Forte and Beverley H Anderson and Giada Ariaudo and Brigitte Bader-Meunier and Eileen M Baildam and Roberta Battini and Michael W Beresford and Manuela Casarano and Mondher Chouchane and Rolando Cimaz and Abigail E. Collins and Nuno J V Cordeiro and Russell C Dale and Joyce E. Davidson and Liesbeth M H De Waele and Isabelle Desguerre and Laurence Faivre and Elisa Fazzi and Bertrand Isidor and Lieven Lagae and Andrew R Latchman and Pierre Lebon and Chumei Li and John H Livingston and Charles M Lourenço and M M Mancardi and Alice Masurel-Paulet and Iain B. Mcinnes and Manoj P Menezes and Cyril Mignot and James P. O’Sullivan and Simona Orcesi and Paolo Butta Pierre Picco and Enrica Riva and Robert A Robinson and Diana Rodr{\'i}guez and Elisabetta Salvatici and Christiaan Scott and Marta Szybowska and J. Tolmie and Adeline Vanderver and Catherine Vanhulle and Jos{\'e} Pedro Vieira and Kate Webb and Robyn N Whitney and Simon J Williams and Lynne A. Wolfe and Sameer M Zuberi and Sun Kyung Hur and Yanick J Crow},
  booktitle={Nature Genetics},
  year={2014}
}
The 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 undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the… CONTINUE READING
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