Department of Pediatrics, Pandy Kalman County Hospital, Gyula, Hungary.
Pediatr Diabetes. 2010 Dec;11(8):579-82. doi: 10.1111/j.1399-5448.2010.00676.x. Epub 2010 Sep 6.
Autoimmune diseases are initiated by interaction between genetic and environmental factors and caused by the loss of immunologic tolerance to self-antigens. They cluster within families and individuals, but the aggregation in a triad is quite rare. We report a case of a young girl affected by three organ-specific autoimmune disorders, from which type 1 diabetes developed first, then Hashimoto's thyroiditis and juvenile rheumatoid arthritis were diagnosed. Hitherto unreported detailed genetic studies included genotyping of HLA class II, CTLA4, and PTPN22 gene regions. These genes have been associated with autoimmunity in general and some of their variants confer increased risk to all three diseases. Our results - with the limitation of reporting only on a single patient - contribute to the complex genetic background of these clustering organ-specific autoimmune diseases and the analysis of further similar cases might help to reveal how the major and minor genetic factors determine the individual clinical phenotype.
自身免疫性疾病是由遗传和环境因素相互作用引发的，其病因是自身抗原的免疫耐受丧失。这些疾病在家族和个体中聚集，但三联征极为罕见。我们报告了一例年轻女孩患有三种器官特异性自身免疫性疾病的病例，其中 1 型糖尿病首先发病，随后诊断出桥本甲状腺炎和幼年特发性关节炎。迄今尚未报道的详细遗传研究包括 HLA Ⅱ类、CTLA4 和 PTPN22 基因区域的基因分型。这些基因与自身免疫有关，其某些变体使所有三种疾病的风险增加。我们的结果——仅限于报告单个患者——有助于解释这些聚集性器官特异性自身免疫性疾病的复杂遗传背景，进一步分析类似病例可能有助于揭示主要和次要遗传因素如何决定个体的临床表型。
