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SP0024 Type I Interferonopathies
  1. Y. Crow1,2
  1. 1Neurogenetics, Imagine, Paris, France
  2. 2Genetic Medicine, University of Manchester, Manchester, United Kingdom


Dissection of the genetic basis of Aicardi-Goutières syndrome has highlighted a fundamental link between nucleic acid metabolism and type I interferon induction, leading to the concept of the human interferonopathies, a broader set of Mendelian disorders where disease pathology relates to a primary upregulation of type I interferon activity. Here we discuss the clinical phenotypes associated with these novel inborn errors of immunity, their pathological basis, and strategies for their treatment.

Disclosure of Interest None declared

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