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Nat Rev Immunol. 2015 Jul;15(7):429-40. doi: 10.1038/nri3850. Epub 2015 Jun 5.

Aicardi-Goutières syndrome and the type I interferonopathies.

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1] Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris 75015, France. [2] Paris Descartes, Sorbonne Paris Cité University, Institute Imagine, Paris 75015, France. [3] Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester M13 9WL, UK.
1] Institut Curie, 26 rue d'Ulm, Paris 75248, France. [2] Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 932, Paris 75005, France.


Dissection of the genetic basis of Aicardi-Goutières syndrome has highlighted a fundamental link between nucleic acid metabolism, innate immune sensors and type I interferon induction. This had led to the concept of the human interferonopathies as a broader set of Mendelian disorders in which a constitutive upregulation of type I interferon activity directly relates to disease pathology. Here, we discuss the molecular and cellular basis of the interferonopathies, their categorization, future treatment strategies and the insights they provide into normal physiology.

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