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Aicardi-Goutières syndrome (AGS) is a monogenic inflammatory disorder typically presenting in infancy as a progressive encephalopathy demonstrating phenotypic overlap in some cases with both congenital infection and systemic lupus erythematosus (SLE), with mutations in 7 genes identified. All forms are associated with a perturbation of type I interferon metabolism,1 with a defect in the removal, or sensing, of endogenously produced nucleic acid species that activate the immune system.1 Recently, immunoglobulin G staining of astrocytes in brain sections of 3 deceased patients with AGS were reported,2 but no specific antigen was identified and the staining patterns were not typical for neuromyelitis optica (NMO). We describe a girl with a heterozygous mutation in IFIH1 who developed NMO with aquaporin-4 antibodies (AQP4-Ab) who clearly responded to immunotherapy.
Footnotes
Author contributions: The study was designed by Y.H. and N.C., with suggestions from Y.J.C. and A.V., Y.H. and A.V. were responsible for antibody testing and Y.J.C. was responsible for the genetic testing. Y.H., S.Z., Y.J.C., and N.C. contributed to the evaluation and recording of clinical data. Y.H. prepared early drafts of the manuscript and all authors contributed to the revisions of the manuscript.
Study funding: No targeted funding reported.
Disclosure: Y. Hacohen and S. Zuberi report no disclosures relevant to the manuscript. A. Vincent serves/has served on scientific advisory boards for the Patrick Berthoud Trust, the Brain Research Trust, and the Myasthenia Gravis Foundation of America; has received funding for travel and a speaker honorarium from Baxter International Inc. and Biogen Inc.; serves as an Associate Editor for Brain; receives royalties from the publication of Clinical Neuroimmunology (Blackwell Publishing, 2005) and Inflammatory and Autoimmune Disorders of the Nervous System in Children (Mac Keith Press, 2010); receives/has received research support from the European Union, NIHR Biomedical Research Centre Oxford, Euroimmun AG, and the Sir Halley Stewart Trust; and has received Musk antibody royalties and consulting fees from Athena Diagnostics Inc. Y. Crow and N. Cordeiro report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.
- Received January 20, 2015.
- Accepted in final form March 24, 2015.
- © 2015 American Academy of Neurology
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