期刊
JOURNAL OF CHILD NEUROLOGY
卷 26, 期 11, 页码 1425-1428出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073811408310
关键词
Aicardi-Goutieres syndrome (AGS); systemic lupus erythematosus (SLE); arthritis; leucoencephalopathy; calcifications; sterile alpha motif domain and HD domain-containing protein 1 (SAMHD1)
资金
- Deutsche Forschungsgemeinschaft (DFG) [LE 1074/3-1]
Aicardi-Goutieres 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-alpha in cerebrospinal fluid. We report on a 12-year-old boy with Aicardi-Goutieres 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-Goutieres syndrome characterized by neurological disease followed by symptoms of systemic autoimmunity. Thus, Aicardi-Goutieres syndrome constitutes a model disease for systemic autoimmunity triggered by the activation of the innate immune system. Recognition of the etiologic link between Aicardi-Goutieres 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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