Abstract
Gain-of-function mutations in IFIH1 were identified in Aicardi-Goutieres syndrome (AGS), a rare neuroimmunological disorder associated with elevated levels of type I interferon and characterized by leucoencephalopathy, brain atrophy and intracranial calcifications leading to profound intellectual disability, spasticity and dystonia. IFIH1 functions as an intracellular innate immune receptor that senses viral nucleic acids and leads to the induction of type I interferon and proinflammatory cytokines.
Highlights
Gain-of-function mutations in IFIH1 were identified in Aicardi-Goutières syndrome (AGS), a rare neuroimmunological disorder associated with elevated levels of type I interferon and characterized by leucoencephalopathy, brain atrophy and intracranial calcifications leading to profound intellectual disability, spasticity and dystonia
We aimed to identify the underlying genetic defect in a 16-year-old girl with severe early-onset and refractory systemic lupus erythematosus (SLE), IgA-deficiency and mild lower limb spasticity without neuroradiological manifestations
Extensive immunological analysis was performed on serum and on peripheral blood mononuclear cells (PBMC) of the patient
Summary
Gain-of-function mutations in IFIH1 were identified in Aicardi-Goutières syndrome (AGS), a rare neuroimmunological disorder associated with elevated levels of type I interferon and characterized by leucoencephalopathy, brain atrophy and intracranial calcifications leading to profound intellectual disability, spasticity and dystonia. Gain-of-function mutation in IFIH1 can cause both aicardi-goutières syndrome and systemic lupus erythematosus with IgA-deficiency Introduction Gain-of-function mutations in IFIH1 were identified in Aicardi-Goutières syndrome (AGS), a rare neuroimmunological disorder associated with elevated levels of type I interferon and characterized by leucoencephalopathy, brain atrophy and intracranial calcifications leading to profound intellectual disability, spasticity and dystonia.
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