Definition
Aicardi-Goutières syndrome (AGS) is a genetically defined inflammatory encephalopathy with onset in infancy with clinical features reminiscent of an in utero acquired viral infection including basal ganglia calcification, microcephaly, leukodystrophy, and cerebrospinal fluid (CSF) lymphocytosis. It is caused by predominantly recessive loss-of-function mutations in the deoxyribonuclease TREX1 (AGS1, MIM#225750); the three subunits of ribonuclease H (RNase H2) encoded by RNASEH2B (AGS2, MIM#610181), RNASEH2C (AGS3, MIM#610329), and RNASEH2A (AGS4, MIM#610333); the triphosphohydrolase and ribonuclease SAMHD1 (AGS5, MIM#612952); and the RNA-editing enzyme ADAR (AGS6, MIM#615010). AGS subtype 7 is caused by autosomal dominant or de novo gain-of-function mutations in IFIH1 (AGS7, MIM#615846) encoding the dsRNA sensor MDA5.
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References
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Tüngler, V., Kubasch, A.S., Lee-Kirsch, M.A. (2019). Aicardi-Goutières Syndrome (AGS1–AGS7). In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_132-1
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DOI: https://doi.org/10.1007/978-1-4614-9209-2_132-1
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