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The Multiple Autoimmune Syndromes. A Clue for the Autoimmune Tautology

Abstract

The multiple autoimmune syndromes (MAS) consist on the presence of three or more well-defined autoimmune diseases (ADs) in a single patient. The aim of this study was to analyze the clinical and genetic characteristics of a large series of patients with MAS. A cluster analysis and familial aggregation analysis of ADs was performed in 84 patients. A genome-wide microsatellite screen was performed in MAS families, and associated loci were investigated through the pedigree disequilibrium test. Systemic lupus erythematosus (SLE), autoimmune thyroid disease (AITD), and Sjögren’s syndrome together were the most frequent ADs encountered. Three main clusters were established. Aggregation for type 1 diabetes, AITD, SLE, and all ADs as a trait was found. Eight loci associated with MAS were observed harboring autoimmunity genes. The MAS represent the best example of polyautoimmunity as well as the effect of a single genotype on diverse phenotypes. Its study provides important clues to elucidate the common mechanisms of ADs (i.e., autoimmune tautology).

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Acknowledgments

We thank all patients and participants. This study was financed by Colciencias (122254531722), the School of Medicine and Health Sciences at the Universidad del Rosario, Bogota, Colombia, and Marshfield Foundation, WI, USA.

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Correspondence to Juan-Manuel Anaya.

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Anaya, JM., Castiblanco, J., Rojas-Villarraga, A. et al. The Multiple Autoimmune Syndromes. A Clue for the Autoimmune Tautology. Clinic Rev Allerg Immunol 43, 256–264 (2012). https://doi.org/10.1007/s12016-012-8317-z

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  • DOI: https://doi.org/10.1007/s12016-012-8317-z

Keywords

  • Autoimmune diseases
  • Systemic lupus erythematosus
  • Sjögren’s syndrome
  • Autoimmune thyroid diseases
  • Genetic association studies
  • Familial aggregation