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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).
Aicardi syndrome is a non-progressive condition and in itself does not lead to any deterioration, but various complications mean that there is an increased mortality associated with the syndrome. Very little is known about the long-term prognosis, but there are occasional reports that the epilepsy may become milder with increasing age.
Different mutations in the TREX1 gene have also been identified in people with disorders involving the immune system. These disorders include a chronic inflammatory disease called Aicardi-Goutieres syndrome, as well as systemic lupus erythematosus (SLE), including a rare form of SLE called chilblain lupus that mainly affects the skin.
Low levels of ribonucleotides incorporation in the nuclear genome may be tolerated. Aberrant nucleic acid substrates, generated by repair pathways non-RNaseH2 dependent (due to reduced RNASEH2 activity in Aicardi-Goutières Syndrome) are thought to drive innate immune response [8]. Alternatively, ribonucleotides might induce DNA-damage response ...
Mutations in SAMHD1 are found in Aicardi–Goutières syndrome (AGS), “a hereditary autoimmune encephalopathy that is characterized by aberrant production of type I interferon (IFN) and symptoms mimicking congenital viral infection”. [21] Monocytes isolated from individuals with AGS are highly susceptible to HIV-1. [7]
Aicardi syndrome; Aicardi–Goutières syndrome; AIDS dysmorphic syndrome; Al-Raqad syndrome; Alagille syndrome; Albinism–deafness syndrome; Alcohol withdrawal syndrome; Alezzandrini syndrome; Alice in Wonderland syndrome; Alien hand syndrome; Allan–Herndon–Dudley syndrome; Allopurinol hypersensitivity syndrome; Alopecia contractures ...
This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene.
It is also a component of the SET complex, and acts to rapidly degrade 3' ends of nicked DNA during granzyme A-mediated cell death. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, RVCL (Retinal Vasculopathy with Cerebral Leukodystrophy), and Cree encephalitis. Multiple transcript variants encoding different ...