期刊
NEUROLOGY
卷 85, 期 4, 页码 381-383出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0000000000001792
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Aicardi-Goutieres 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.
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