title: Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations.
abstract: 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.
authors.affiliation: Epilepsy Center, University Hospital Freiburg, Germany. georgia.ramantani@uniklinik-freiburg.de
authors.forename: Georgia
authors.initials: G
authors.lastname: Ramantani
authors.forename: Martin
authors.initials: M
authors.lastname: Häusler
authors.forename: Pascal
authors.initials: P
authors.lastname: Niggemann
authors.forename: Britta
authors.initials: B
authors.lastname: Wessling
authors.forename: Hedwig
authors.initials: H
authors.lastname: Guttmann
authors.forename: Michael
authors.initials: M
authors.lastname: Mull
authors.forename: Klaus
authors.initials: K
authors.lastname: Tenbrock
authors.forename: Min Ae
authors.initials: MA
authors.lastname: Lee-Kirsch
mesh_terms: D020274:Autoimmune Diseases of the Nervous System / Q000150:complications* / Q000235:genetics*; D002648:Child; D004569:Electroencephalography; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000150:complications* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D020559:Monomeric GTP-Binding Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009421:Nervous System Malformations / Q000150:complications* / Q000235:genetics*; D000076106:SAM Domain and HD Domain-Containing Protein 1
chemical_list: D000076106:SAM Domain and HD Domain-Containing Protein 1; C484280:SAMHD1 protein, human; D020559:Monomeric GTP-Binding Proteins