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The Multiple Autoimmune Syndromes. A Clue for the Autoimmune Tautology

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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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Authors and Affiliations

  1. Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24 # 63C-69, Piso 3, Bogotá, Colombia

    Juan-Manuel Anaya, Adriana Rojas-Villarraga, Ricardo Pineda-Tamayo & Ruben D. Mantilla

  2. Doctoral Program in Biomedical Sciences, Universidad del Rosario, Bogotá, Colombia

    John Castiblanco & Juan Esteban Gallo

  3. Veterans Administration Center for Personalized Medicine, South Texas Veterans Health Care System, Department of Medicine, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA

    John Castiblanco

  4. ART-Medica IPS, Medellin, Colombia

    Ricardo Pineda-Tamayo

  5. Discipline of Rheumatology, Universidade do Estado do Rio de Janeiro and Federico Foundation, Rio de Janeiro, Brazil

    Roger A. Levy

  6. Department of Autoimmune Diseases, Hospital Clínic, Barcelona, Catalonia, Spain

    José Gómez-Puerta & Ricard Cervera

  7. Internal Medicine Service, Hospital de São João, Porto, Portugal

    Carlos Dias

  8. Riesgo de Fractura-CAYRE IPS, Bogotá, Colombia

    Ruben D. Mantilla

  9. Zabludowicz Center for Autoimmune Diseases, Sheba Medical Center, Tel Aviv, Israel

    Yehuda Shoenfeld

  10. John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia

    Mauricio Arcos-Burgos

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  1. Juan-Manuel Anaya
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  2. John Castiblanco
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  12. Mauricio Arcos-Burgos
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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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