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 language | English |
|---|---|
| Pages (from-to) | 1-7 |
| Number of pages | 7 |
| Journal | Journal of Clinical Immunology |
| DOIs | |
| Publication status | Accepted/In press - Aug 18 2016 |
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Keywords
- Aicardi–Goutières syndrome
- Auto-antibodies
- Autoimmunity
- Interferonopathy
ASJC Scopus subject areas
- Immunology and Allergy
- Immunology
Cite this
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 journal › Article
}
TY - JOUR
T1 - Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi–Goutières Syndrome
AU - Cattalini, Marco
AU - Galli, Jessica
AU - Andreoli, Laura
AU - Olivieri, Ivana
AU - Ariaudo, Giada
AU - Fredi, Micaela
AU - Iagsa Study Group, Study Group
AU - Orcesi, Simona
AU - Tincani, Angela
AU - Fazzi, Elisa
PY - 2016/8/18
Y1 - 2016/8/18
N2 - 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.
AB - 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.
KW - Aicardi–Goutières syndrome
KW - Auto-antibodies
KW - Autoimmunity
KW - Interferonopathy
UR - http://www.scopus.com/inward/record.url?scp=84982279598&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84982279598&partnerID=8YFLogxK
U2 - 10.1007/s10875-016-0325-y
DO - 10.1007/s10875-016-0325-y
M3 - Article
AN - SCOPUS:84982279598
SP - 1
EP - 7
JO - Journal of Clinical Immunology
JF - Journal of Clinical Immunology
SN - 0271-9142
ER -