The multiple autoimmune syndromes. A clue for the autoimmune tautology

Juan Manuel Anaya, John Castiblanco, Adriana Rojas-Villarraga, Ricardo Pineda-Tamayo, Roger A. Levy, José Gómez-Puerta, Carlos Dias, Ruben D. Mantilla, Juan Esteban Gallo, Ricard Cervera, Yehuda Shoenfeld, Mauricio Arcos-Burgos

Producción científica: Contribución a una revistaArtículorevisión exhaustiva

59 Citas (Scopus)


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).

Idioma originalInglés estadounidense
Páginas (desde-hasta)256-264
Número de páginas9
PublicaciónClinical Reviews in Allergy and Immunology
EstadoPublicada - dic. 2012

Áreas temáticas de ASJC Scopus

  • Inmulogía y alergología


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