Objective

Genes and environment contribute to the multifactorial etiology of autoimmune diseases. Familial clusters of autoimmune diseases are often observed among first-degree relatives sharing the same genetic background and environmental exposure. Rarer is the occurrence of the same autoimmune diseases in non-consanguineous spouses. We hereinafter report two non-consanguineous spouses who developed one after the other AChR-positive myasthenia gravis.

Methods

This study has been approved by Catholic University Ethic Committee. The wife, previously affected by Graves-Basedow disease, was the first to be diagnosed with myasthenia gravis, basing on a generalized weakness and an anti-AChR-positive assay. The husband, who suffered from ulcerative colitis, 16 years after his wife diagnosis complained of a mild generalized weakness. Repetitive nerve stimulation test and anti-AChR assay were confirmed myasthenia gravis. In these spouses, myasthenia gravis was not associated with thymoma. Human leukocyte antigen (HLA) class II genotyping showed distinct associations, with the wife carrying the DRB1*03:01 DQB1*02:01 and the husband the DRB1*07 DQB102 alleles.

Results

The wife’s haplotype is strongly associated with myasthenia gravis and thyroiditis whereas HLA DRB1*07 allele was found to be related both to late-onset myasthenia gravis and ulcerative colitis.

Conclusions

Compared with other autoimmune disorders, myasthenia gravis has a lower prevalence. The surveillance environmental exposure may greatly improve our knowledge of non-genetic drivers of autoimmunity.

中文翻译：

---

在疾病和健康中：重症肌无力是夫妻问题

目的

基因和环境有助于自身免疫性疾病的多种病因。在具有相同遗传背景和环境暴露的一级亲属中经常观察到自身免疫性疾病的家族簇。在非血缘配偶中发生相同的自身免疫性疾病的可能性更高。在下文中，我们报告了两名非近亲配偶，他们的AChR阳性重症肌无力在一个之后。

方法

这项研究已得到天主教大学伦理委员会的批准。该妻子先前患有Graves-Basedow病，是第一个被诊断患有重症肌无力的人，其原因是全身无力和抗AChR阳性。患有溃疡性结肠炎的丈夫在其妻子被诊断出16年后抱怨患有轻度的全身性肌无力。重复性神经刺激试验和抗AChR测定证实为重症肌无力。在这些配偶中，重症肌无力与胸腺瘤无关。人类白细胞抗原（HLA）II类基因分型显示出明显的关联，妻子携带DRB1 * 03：01 DQB1 * 02：01，而丈夫携带DRB1 * 07 DQB102等位基因。

结果

妻子的单倍型与重症肌无力和甲状腺炎密切相关，而HLA DRB1 * 07等位基因则与迟发性重症肌无力和溃疡性结肠炎有关。

结论

与其他自身免疫性疾病相比，重症肌无力的患病率较低。监测环境的暴露可能会大大提高我们对自身免疫非遗传驱动因素的了解。