| Aicardi-Goutieres Syndrome and Systemic Lupus Erythematosus (SLE) in a 12-Year-Old Boy With SAMHD1 Mutations. | |
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MedLine Citation:
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PMID: 21670392 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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 cerebrospinal fluid. We report on a 12-year-old boy with Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) due to mutations in the SAMHD1 (sterile alpha motif domain and HD domain-containing protein 1) gene, illustrating an emerging pattern of the natural history of Aicardi-Goutières syndrome characterized by neurological disease followed by symptoms of systemic autoimmunity. Thus, Aicardi-Goutières syndrome constitutes a model disease for systemic autoimmunity triggered by the activation of the innate immune system. Recognition of the etiologic link between Aicardi-Goutières syndrome and systemic lupus erythematosus has direct implications on therapeutic management and suggests that early immune modulatory intervention can improve neurological outcome. |
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Authors:
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Georgia Ramantani; Martin Häusler; Pascal Niggemann; Britta Wessling; Hedwig Guttmann; Michael Mull; Klaus Tenbrock; Min Ae Lee-Kirsch |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-6-13 |
Journal Detail:
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Title: Journal of child neurology Volume: - ISSN: 1708-8283 ISO Abbreviation: - Publication Date: 2011 Jun |
Date Detail:
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Created Date: 2011-6-14 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Epilepsy Center, University Hospital Freiburg, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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