Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.

نویسنده

  • J Diamond
چکیده

Aicardi-Goutières Syndrome is caused by IFIH1 mutations Oda et al.(2014) The American Journal of Human Genetics 95(1): 121-125. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Rice et al.(2014) Nature Genetics 46(5): 503-510.

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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. IFIH1 functions as an intracellular innate immune...

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Aicardi-Goutières syndrome (AGS) is a genetic inflammatory disease. The classic neuroradiological picture mimics that of congenital infections in that Aicardi-Goutières syndrome is characterized by leukoencephalopathy, brain atrophy and intracranial calcifications. To date, bilateral striatal necrosis has not been reported in patients with AGS. We report on two patients with clinical diagnosis ...

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A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient.

This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1111/bjd.15869 This article is protected by copyright. All rights reserved. DR TAKUYA TAKEICHI (Orcid ID : 0000-0...

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عنوان ژورنال:
  • Clinical genetics

دوره 86 5  شماره 

صفحات  -

تاریخ انتشار 2014