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The multiple autoimmune syndromes: A clue for the autoimmune tautology

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

Description

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....[Show more]

dc.contributor.authorJuan-Manuel, Anaya
dc.contributor.authorCastiblanco, John
dc.contributor.authorRojas-Villarraga, Adriana
dc.contributor.authorPineda-Tamayo, Ricardo
dc.contributor.authorLevy, Roger A.
dc.contributor.authorGomez-Puerta, Jose
dc.contributor.authorDias, Carlos
dc.contributor.authorMantilla, Ruben D.
dc.contributor.authorGallo, Juan Esteban
dc.contributor.authorCervera, Ricard
dc.contributor.authorShoenfeld, Yehuda
dc.contributor.authorArcos-Burgos, Mauricio (Oscar)
dc.date.accessioned2015-12-07T22:23:21Z
dc.identifier.issn1080-0549
dc.identifier.urihttp://hdl.handle.net/1885/20637
dc.description.abstractThe 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).
dc.publisherSpringer
dc.sourceClinical Reviews in Allergy & Immunology
dc.subjectKeywords: antinuclear antibody; cardiolipin antibody; double stranded DNA antibody; immunoglobulin G antibody; immunoglobulin M antibody; La antibody; ribonucleoprotein antibody; Ro antibody; Sm antibody; thyroglobulin antibody; thyroid peroxidase antibody; adult; Autoimmune diseases; Autoimmune thyroid diseases; Familial aggregation; Genetic association studies; Sjögren's syndrome; Systemic lupus erythematosus
dc.titleThe multiple autoimmune syndromes: A clue for the autoimmune tautology
dc.typeJournal article
local.description.notesImported from ARIES
local.identifier.citationvolume43
dc.date.issued2012
local.identifier.absfor060406 - Genetic Immunology
local.identifier.ariespublicationu4492120xPUB13
local.type.statusPublished Version
local.contributor.affiliationJuan-Manuel, Anaya, Universidad de Rosario
local.contributor.affiliationCastiblanco, John, Hospital de Sao Joao
local.contributor.affiliationRojas-Villarraga, Adriana, Universidad de Rosario
local.contributor.affiliationPineda-Tamayo, Ricardo, Universidad de Rosario
local.contributor.affiliationLevy, Roger A., Universidade do Estado do Rio de Janerio
local.contributor.affiliationGomez-Puerta, Jose, Hospital Clinic
local.contributor.affiliationDias, Carlos, Hospital de Sao Joao
local.contributor.affiliationMantilla, Ruben D., Universidad de Rosario
local.contributor.affiliationGallo, Juan Esteban, Universidad de Rosario
local.contributor.affiliationCervera, Ricard, Riesgo de Fractura-CAYRE IPS
local.contributor.affiliationShoenfeld, Yehuda, Sheba Medical Center
local.contributor.affiliationArcos-Burgos, Mauricio (Oscar), College of Medicine, Biology and Environment, ANU
local.description.embargo2037-12-31
local.bibliographicCitation.issue3
local.bibliographicCitation.startpage64
local.identifier.doi10.1007/s12016-012-8317-z
dc.date.updated2016-02-24T11:10:41Z
local.identifier.scopusID2-s2.0-84871669485
local.identifier.thomsonID000310889100007
CollectionsANU Research Publications

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