Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.

Journal article

Aicardi-Goutières syndrome (AGS) is a genetically determined encephalopathy demonstrating phenotypic overlap both with the sequelae of congenital infection and with systemic lupus erythematosus (SLE). Recent molecular advances have revealed that AGS can be caused by mutations in any one of five genes, most commonly on a recessive basis but occasionally as a dominant trait. Like AGS, SLE is associated with a perturbation of type I interferon metabolism. Interestingly then, heterozygous mutatio...

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Authors: Crow, Y; Rehwinkel, J

• Publication status: Published
• Journal: Human molecular genetics
• Volume: 18
• Issue: R2
• Pages: R130-R136
• Publication date: 2009-10-01
• DOI: 10.1093/hmg/ddp293
• EISSN: 1460-2083
• ISSN: 0964-6906
• Language: English
• Keywords: Nucleic Acids; Syndrome; Exodeoxyribonucleases; Phosphoproteins; Autoimmunity; Phenotype; Abnormalities, Multiple; Humans