Aicardi-Goutieres syndrome is an autosomal dominant or recessive disorder caused by mutations of many genes involved in innate immune response. Aicardi-Goutieres syndrome is characterized by subacute encephalopathy with basal ganglia calcification, cystic leukodystrophy, lymphocytosis of the cerebrospinal fluid. The onset is usually soon after birth, but also milder cases with normal cognitive function have been reported.
The prevalence of the whole group is 1-5:10,000.
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