The multiple autoimmune syndromes. A clue for the autoimmune tautology.
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).
Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24 # 63C-69, Piso 3, Bogotá, Colombia. anayajm@gmail.com
Juan-Manuel
JM
Anaya
John
J
Castiblanco
Adriana
A
Rojas-Villarraga
Ricardo
R
Pineda-Tamayo
Roger A
RA
Levy
José
J
Gómez-Puerta
Carlos
C
Dias
Ruben D
RD
Mantilla
Juan Esteban
JE
Gallo
Ricard
R
Cervera
Yehuda
Y
Shoenfeld
Mauricio
M
Arcos-Burgos
D000328:Adult; D001327:Autoimmune Diseases / Q000235:genetics* / Q000276:immunology*; D015551:Autoimmunity / Q000235:genetics / Q000276:immunology; D056426:Genetic Loci; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D010641:Phenotype