Inherited interferonopathy with leukodystrophy, brain calcification and chilblains.
- Specialty
- Neurology
- Subspecialty
- Neurology / Pediatric neurology; Neurogenetics
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, onset in infancy
- Gene(s) involved
- ADAR, IFIH1, LSM11, RNASEH2A, RNASEH2B, RNASEH2C, RNU7-1, SAMHD1, TREX1
- Alternative names & eponyms
- AGS
Etiology & mechanism
Defective nucleic acid metabolism triggers type I interferon activation.
Gene(s) involved (9)
Symptoms & signs (7)
In plain terms, someone with Aicardi–Goutières syndrome may experience the following — click any to explore related syndromes:
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