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What is Gautier syndrome?

Published in Genetic Disorders 1 min read

Gautier syndrome, more accurately referred to as Aicardi-Goutières syndrome (AGS), is a rare, inherited disorder primarily affecting the brain, immune system, and skin.

Understanding Aicardi-Goutières Syndrome (AGS)

AGS is also known by other names, including:

  • Pseudotoxoplasmosis syndrome
  • Encephalopathy with basal ganglia calcification
  • Cree encephalitis

Key Characteristics of AGS

AGS is characterized by affecting these main systems:

  • Brain: The syndrome often leads to neurological problems.
  • Immune System: AGS impacts the body's defense mechanisms.
  • Skin: Skin-related symptoms can be present.

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