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. 2019 Dec 19;6(1):e384.
doi: 10.1212/NXG.0000000000000384. eCollection 2020 Feb.

Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation

Victoria Tüngler  1 , Marion Doebler-Neumann  1 , Michaela Salandin  1 , Peter Kaufmann  1 , Christine Wolf  1 , Nadja Lucas  1 , Florian Harmuth  1 , Jennifer Reichbauer  1 , Ingeborg Krägeloh-Mann  1 , Rebecca Schüle  1 , Min Ae Lee-Kirsch  1
Affiliations

Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation

Victoria Tüngler et al. Neurol Genet. .
No abstract available

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Figures

Figure
Figure. Clinical and molecular findings
(A) Pedigree. (B) MRI of II:1 at 2 years, delayed myelination and white matter hyperintensity (left, white arrows), and unchanged at 5 years (right). (C) Heterozygous IFIH1 mutations in the children, weak mutation peak in the father (reverse sequence). (D) IFN scores (p ≤ 0.0007, before vs after ruxolitinib), calculated as described. IFN = interferon.
See this image and copyright information in PMC

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