Aicardi syndrome should not be confused with Aicardi-Goutières syndrome, a distinct disorder.

Rarely, chilblains in infants, together with severe neurologic disease and unexplained fevers, can be seen in Aicardi-Goutières syndrome, a rare inherited condition.

Actually, 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.

He has also used comparative genomics to contribute directly to the understanding of chromatin structure and the genetics of numerous conditions including asthma, obesity, Alzheimer's disease, retinitis pigmentosa, muscular dystrophies, and Aicardi-Goutières syndrome.

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".

Aicardi-Goutières syndrome is a congenital immune-mediated neurodevelopmental disorder caused by mutations in the SAMHD1, TREX1, or Ribonuclease H2 (RNASEH2A, RNASEH2B, RNASEH2C) genes.