Aicardi-Goutières syndrome (AGS) is an inherited heterogeneous encephalopathy with an early onset with both autosomal dominant and recessive forms. Severe manifestations include cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon,epatosplenomegaly, elevated liver enzymes, and thrombocytopenia. This disease develops with characteristics typical of inflammatory (inflammation and tissue damage in the central nervous system) and autoimmune disorders (about 40% of AGS patients show chilblain skin lesions on the fingers, toes and ears, typical of lupus-like syndrome and recurrent fever in absence of infection). Affected genes are involved in DNA repair, innate response dysregulation, and RNA processing abnormalities.
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