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Article

Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations.

Journal of child neurology - 1 Nov 2011

Ramantani Georgia, Häusler Martin, Niggemann Pascal, Wessling Britta, Guttmann Hedwig, Mull Michael, Tenbrock Klaus, Lee-Kirsch Min Ae

Abstract excerpt

Aicardi-Goutières syndrome is an early-onset encephalopathy with a presumed immune pathogenesis caused by inherited defects in nucleic acid metabolism. The clinical picture resembles a congenital viral infection despite negative investigations for common viruses. In addition to leukoencephalopathy with calcifications of basal ganglia, patients show increased levels of the antiviral cytokine interferon-α in...

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Source

Identifiers

PMID: 21670392
DOI: 10.1177/0883073811408310

Genes

SAMHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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