Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi–Goutières Syndrome

Marco Cattalini, Jessica Galli, Laura Andreoli, Ivana Olivieri, Giada Ariaudo, Micaela Fredi, Study Group Iagsa Study Group, Simona Orcesi, Angela Tincani, Elisa Fazzi

Research output: Contribution to journalArticle

Abstract

Purpose: 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). Methods: 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. Results: 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. Conclusions: 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.

Original languageEnglish
Pages (from-to)1-7
Number of pages7
JournalJournal of Clinical Immunology
DOIs
Publication statusAccepted/In press - Aug 18 2016

Fingerprint

Autoimmunity
Autoantibodies
Autoimmune Diseases
Medical History Taking
Mothers
Autoimmune Thyroiditis
Nuclear Antigens
Cardiolipins
Nucleosomes
Nucleic Acids
Interferons
Signs and Symptoms
Antibody Formation
Neutrophils
DNA

Keywords

  • Aicardi–Goutières syndrome
  • Auto-antibodies
  • Autoimmunity
  • Interferonopathy

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

Cattalini, M., Galli, J., Andreoli, L., Olivieri, I., Ariaudo, G., Fredi, M., ... Fazzi, E. (Accepted/In press). Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi–Goutières Syndrome. Journal of Clinical Immunology, 1-7. https://doi.org/10.1007/s10875-016-0325-y

Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi–Goutières Syndrome. / Cattalini, Marco; Galli, Jessica; Andreoli, Laura; Olivieri, Ivana; Ariaudo, Giada; Fredi, Micaela; Iagsa Study Group, Study Group; Orcesi, Simona; Tincani, Angela; Fazzi, Elisa.

In: Journal of Clinical Immunology, 18.08.2016, p. 1-7.

Research output: Contribution to journalArticle

Cattalini, M, Galli, J, Andreoli, L, Olivieri, I, Ariaudo, G, Fredi, M, Iagsa Study Group, SG, Orcesi, S, Tincani, A & Fazzi, E 2016, 'Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi–Goutières Syndrome', Journal of Clinical Immunology, pp. 1-7. https://doi.org/10.1007/s10875-016-0325-y
Cattalini, Marco ; Galli, Jessica ; Andreoli, Laura ; Olivieri, Ivana ; Ariaudo, Giada ; Fredi, Micaela ; Iagsa Study Group, Study Group ; Orcesi, Simona ; Tincani, Angela ; Fazzi, Elisa. / Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi–Goutières Syndrome. In: Journal of Clinical Immunology. 2016 ; pp. 1-7.
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