Gain-of-function mutation in IFIH1 can cause both aicardi-goutières syndrome and systemic lupus erythematosus with IgA-deficiency

Eitemau Tebyg

• Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations
  gan: Oda, Hirotsugu, et al.
  Cyhoeddwyd: (2014)
• Neuropathological Findings in a Case of IFIH1-Related Aicardi–Goutières Syndrome
  gan: Gilani, Ahmed, et al.
  Cyhoeddwyd: (2019)
• Case Report: Aicardi-Goutières Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1
  gan: Xiao, Wei, et al.
  Cyhoeddwyd: (2021)
• Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation
  gan: Tüngler, Victoria, et al.
  Cyhoeddwyd: (2019)
• Overlapping Aicardi–Goutières and Singleton–Merten syndromes with a heterozygous gain-of-function mutation in IFIH1 mimicking juvenile idiopathic arthritis
  gan: Susumu Yamazaki, et al.
  Cyhoeddwyd: (2025-07-01)