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Aicardi–Goutières syndrome

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Aicardi–Goutières syndrome (AGS), which is completely distinct from the similarly named Aicardi syndrome, is a rare, usually early onset childhood, inflammatory disorder most typically affecting the brain and the skin (neurodevelopmental disorder).The majority of affected individuals experience significant intellectual and physical problems, although this is not always the case. The clinical features of AGS can mimic those of in utero acquired infection, and some characteristics of the condition also overlap with the autoimmune disease systemic lupus erythematosus.

Links G93.4

Disease classification WHO
31.8 Aicardi–Goutières syndrome

Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation

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