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  • A genetic condition usually inherited in an autosomal dominant pattern. It is cause by mutation(s) in the IFIH1 gene, encoding interferon-induced helicase C domain-containing protein 1. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon.
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