TY - JOUR
T1 - The multiple autoimmune syndromes. A clue for the autoimmune tautology
AU - Anaya, Juan Manuel
AU - Castiblanco, John
AU - Rojas-Villarraga, Adriana
AU - Pineda-Tamayo, Ricardo
AU - Levy, Roger A.
AU - Gómez-Puerta, José
AU - Dias, Carlos
AU - Mantilla, Ruben D.
AU - Gallo, Juan Esteban
AU - Cervera, Ricard
AU - Shoenfeld, Yehuda
AU - Arcos-Burgos, Mauricio
N1 - Funding Information:
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.
Copyright:
Copyright 2013 Elsevier B.V., All rights reserved.
PY - 2012/12
Y1 - 2012/12
N2 - 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).
AB - 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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U2 - 10.1007/s12016-012-8317-z
DO - 10.1007/s12016-012-8317-z
M3 - Article
C2 - 22648455
AN - SCOPUS:84871669485
SN - 1080-0549
VL - 43
SP - 256
EP - 264
JO - Clinical Reviews in Allergy and Immunology
JF - Clinical Reviews in Allergy and Immunology
IS - 3
ER -
