Family history of autoimmune disease in patients with aicardi- goutières syndrome

Johanna L. Schmidt, Ivana Olivieri, Jodie M. Vento, Elisa Fazzi, Heather Gordish-Dressman, Simona Orcesi, Adeline Vanderver

Research output: Contribution to journalArticle

Abstract

Purpose. The purpose of this study was to explore anecdotal evidence for an increase in the prevalence of autoimmune diseases in family members of patients with Aicardi-Goutières syndrome (AGS). Methods. Pedigrees of patients and controls were analyzed using chi-square and logistic regression to assess differences in reports of autoimmune disease among family members of cases and controls. Data was collected at Children's National Medical Center in Washington, DC, USA and at the International Aicardi-Goutières Syndrome Association Scientific Headquarters, C. Mondino National Institute of Neurology in Pavia, Italy. Results. The number of individuals with reported autoimmune disease is significantly related to having a family member with AGS (χ 2 = 6.25, P = 0.01); 10% (35/320) of relatives of patients with AGS had a reported autoimmune disease diagnosis compared to 5% (18/344) of relatives of controls. There was a greater percent of maternal relatives of patients with AGS reporting autoimmune disease (14.6%), compared to controls (6.8%), with the association being statistically significant. The association was not significant for paternal relatives. Conclusion. The prevalence of autoimmune disease in relatives of children with AGS is significantly increased compared to controls. More research is needed to better understand this association.

Original languageEnglish
Article number206730
JournalClinical and Developmental Immunology
Volume2012
DOIs
Publication statusPublished - 2012

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy
  • Medicine(all)

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    Schmidt, J. L., Olivieri, I., Vento, J. M., Fazzi, E., Gordish-Dressman, H., Orcesi, S., & Vanderver, A. (2012). Family history of autoimmune disease in patients with aicardi- goutières syndrome. Clinical and Developmental Immunology, 2012, [206730]. https://doi.org/10.1155/2012/206730