title: Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome.
abstract: The purpose of this study was to explore the presence of autoimmune manifestations and characterize the autoantibody production in a cohort of patients with Aicardi-Goutières syndrome (AGS).
  
  
  
  Seventeen patients with a genetically-confirmed diagnosis of AGS were recruited. At the time of enrollment, past medical and family history was reviewed, looking for possible signs or symptoms of autoimmune disorders. Blood samples were taken, for the detection of a panel of autoantibodies: anti-nuclear, anti-double-stranded-DNA, anti-nucleosome, anti-extractable nuclear antigens, anti-cardiolipin IgG/IgM, anti-β2glycoprotein I IgG/IgM, and anti-neutrophil cytoplasmic. We also measured complement levels determined as C3 and C4 quantification and total complement activity, measured as CH50.
  
  
  
  Nine of seventeen patients presented with at least one first- or second-degree relative with a history of autoimmune diseases (the childrens' mother or grand-mother in the majority of cases). A specific autoimmune disease was present in only one AGS patient, namely an autoimmune thyroiditis. Autoantibodies were present in 9/17 patients, with different patterns of positivity. Complement levels were normal in all the patients. There was no correlation between auto-antibody production and personal or family history of autoimmune diseases.
  
  
  
  Definite autoimmune diseases are not common in patients with AGS. Autoantibodies are mainly directed towards nucleic acids-containing elements but seem not to be pathogenic and, rather, may represent an epiphenomenon of the enhanced interferon production.
authors.affiliation: Pediatric Clinic, Spedali Civili di Brescia, Brescia, Italy. marco.cattalini@unibs.it.|Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy. marco.cattalini@unibs.it.
authors.forename: Marco
authors.identifier: 0000-0002-7500-8838
authors.initials: M
authors.lastname: Cattalini
authors.affiliation: Child Neurology and Psychiatry Unit, Spedali Civili di Brescia, Brescia, Italy.|Department of Clinical Immunology and Rheumatology, Spedali Civili di Brescia, Brescia, Italy.
authors.forename: Jessica
authors.initials: J
authors.lastname: Galli
authors.affiliation: Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.|Department of Clinical Immunology and Rheumatology, Spedali Civili di Brescia, Brescia, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Andreoli
authors.affiliation: Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.|Don Carlo Gnocchi ONLUS Foundation, Milan, Italy.
authors.forename: Ivana
authors.initials: I
authors.lastname: Olivieri
authors.affiliation: Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.|Department of Brain and Behavioural Sciences, Child Neurology and Psychiatry Unit, University of Pavia, Pavia, Italy.
authors.forename: Giada
authors.initials: G
authors.lastname: Ariaudo
authors.affiliation: Department of Clinical Immunology and Rheumatology, Spedali Civili di Brescia, Brescia, Italy.
authors.forename: Micaela
authors.initials: M
authors.lastname: Fredi
authors.affiliation: Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Orcesi
authors.affiliation: Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.|Department of Clinical Immunology and Rheumatology, Spedali Civili di Brescia, Brescia, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Tincani
authors.affiliation: Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.|Child Neurology and Psychiatry Unit, Spedali Civili di Brescia, Brescia, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Fazzi
mesh_terms: D000483:Alleles; D001323:Autoantibodies / Q000097:blood / Q000276:immunology; D020274:Autoimmune Diseases of the Nervous System / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*; D015551:Autoimmunity / Q000235:genetics*; D015415:Biomarkers; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004198:Disease Susceptibility; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009421:Nervous System Malformations / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*; D010641:Phenotype
chemical_list: D001323:Autoantibodies; D015415:Biomarkers
keywords: Aicardi–Goutières syndrome; Auto-antibodies; Autoimmunity; Interferonopathy