Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24 # 63C-69, Piso 3, Bogotá, Colombia.
Clin Rev Allergy Immunol. 2012 Dec;43(3):256-64. doi: 10.1007/s12016-012-8317-z.
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).
多种自身免疫综合征（MAS）是指在单个患者中同时存在三种或三种以上明确界定的自身免疫性疾病（AD）。本研究旨在分析一大系列 MAS 患者的临床和遗传特征。对 84 例患者的 AD 进行聚类分析和家族聚集分析。对 MAS 家系进行全基因组微卫星筛查，并通过系谱不平衡检验研究相关基因座。系统性红斑狼疮（SLE）、自身免疫性甲状腺疾病（AITD）和干燥综合征是最常见的 AD。建立了三个主要聚类。发现 1 型糖尿病、AITD、SLE 和所有 AD 作为特征存在聚集性。观察到 8 个与 MAS 相关的基因座，其中包含自身免疫基因。MAS 是多自身免疫的最佳范例，也是单一基因型对多种表型的影响。对其研究为阐明 AD 的共同机制（即自身免疫同义性）提供了重要线索。
