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Autoimmune polyendocrine syndrome-3 in a patient with late-onset multiple sclerosis

机译:迟发性多发性硬化症患者的自身免疫性多内分泌综合征3

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摘要

We present here the rare case of a 73-year-old patient with very late-onset multiple sclerosis who developed autoimmune polyendocrine syndrome (APS)-3. Despite only a few reports describing the association between multiple sclerosis and APS, both of these diseases have been shown to be associated with HLA-DR4. Intriguingly, the HLA genotype profile of this patient included HLA-DR4 which, fine mapped to the DRB1*0405-DQA1*0303-DQB1*0401 extended haplotype, reported to be a susceptibility haplotype for APS-3 in Japan. This unique genetic background might explain the clinical picture of this patient.
机译:我们在这里介绍的罕见病例是一名73岁的患者,其患有非常迟发的多发性硬化症,并发展了自身免疫性多内分泌综合征(APS)-3。尽管仅有少数报道描述多发性硬化症和APS之间的关联,但已显示这两种疾病均与HLA-DR4相关。有趣的是,该患者的HLA基因型谱包括精细映射到DRB1 * 0405-DQA1 * 0303-DQB1 * 0401扩展单倍型的HLA-DR4,据报道是日本APS-3的易感单倍型。这种独特的遗传背景可能解释了该患者的临床情况。

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