%0 Journal Article
%T Family History of Autoimmune Disease in Patients with Aicardi-Gouti¨¨res Syndrome
%A Johanna L. Schmidt
%A Ivana Olivieri
%A Jodie M. Vento
%A Elisa Fazzi
%A Heather Gordish-Dressman
%A Simona Orcesi
%A Adeline Vanderver
%J Journal of Immunology Research
%D 2012
%R 10.1155/2012/206730
%X 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-Gouti¨¨res 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-Gouti¨¨res 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 ( , ); 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. 1. Introduction Aicardi-Gouti¨¨res syndrome (AGS) is a heritable neurologic disorder with an immune basis. Patients most typically present early in life with increased cerebrospinal fluid (CSF) interferon alpha and markers of inflammation, elevated liver enzymes, thrombocytopenia, intracranial calcifications and leukoencephalopathy. Patients with AGS usually demonstrate severe neurologic dysfunction and life-long disability. The immune basis of AGS was originally suspected by Aicardi and Gouti¨¨res, as a persistent CSF pleocytosis was seen in affected infants. Infants presented with what appeared to be a congenital infection [1], and reports of elevations of CSF IFN¦Á [2] and neopterin [3, 4] further suggested that an immune process was at play. However, it was not until the identification of AGS related mutations in nucleases, including TREX1 and the three constituent subunits of RNase H2, as well as a nonnuclease, SAMHD1, that the relationship between innate cellular immunity and AGS began to be more fully understood. Discovery of the genes associated with AGS allowed for further definition of the phenotype. Most patients with AGS were found to have homozygous or compound heterozygous changes in these genes. AGS was also found to be
%U http://www.hindawi.com/journals/jir/2012/206730/