Aicardi-Goutieres syndrome: from patients to genes and beyond.

  title={Aicardi-Goutieres syndrome: from patients to genes and beyond.},
  author={C Chahwan and Richard Chahwan},
  journal={Clinical genetics},
  volume={81 5},
Aicardi-Goutières syndrome (AGS) is a hereditary neurodegenerative disorder characterized mainly by early onset progressive encephalopathy, concomitant with an increase in interferon-α levels in the cerebrospinal fluid. Although it was initially mistaken for intrauterine viral infections, AGS has now been genetically attributed to a lack of adequate processing of cellular nucleic acid debris, which culminates in the perpetual trigger of the innate and acquired immune responses. Although the… CONTINUE READING


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