Acute Disseminated Encephalomyelitis (ADEM) is an acute, multifocal, monophasic, inflammatory demyelinating disease of the central nervous system that affects predominantly children. Aim of the study was to evaluate the distribution of Human Leukocyte Antigen (HLA) class II haplotype in adult ADEM patients, in order to better characterize this rare clinical entity. Six patients (3 males and 3 females; median age 50 years) with ADEM were retrospectively studied in our Neurology Unit; 29 healthy subjects (8 males and 21 females, mean age 43.4±14.3) were the control group. All the study subjects were molecularly typed for HLA class II haplotype. The frequencies of HLA-DRB1*16 (17% vs 3% in control group; Py=0.02) and HLA-DQB1*05 (42% against 24% in the control group; Py=0.010), as well as the association HLA-DRB1*16/HLA-DQB1*05 were significantly increased in ADEM population compared to the control group. The frequencies of allelic association between 13-04 (P < 0.01) and homozygosis 14 (P < 0.05) alleles at HLA-DRB1* locus and 05-02 (P < 0.05) alleles at HLA-DQB* locus also were increased in ADEM patients. Our preliminary data provide further evidence that the HLA-DR/DQ haplotypes may be involved in susceptibility to immunomediate demyelinating diseases of central nervous system in the Caucasian population.

中文翻译：

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HLA II类单倍型是否在成人急性弥漫性脑脊髓炎中起作用？来自意大利南部医院的一项研究的初步结果。

急性弥漫性脑脊髓炎（ADEM）是中枢神经系统的急性，多灶，单相，炎症性脱髓鞘疾病，主要影响儿童。该研究的目的是评估成人ADEM患者中人类白细胞抗原（HLA）II类单倍型的分布，以便更好地表征这种罕见的临床个体。在我们的神经内科中回顾性研究了6例ADEM患者（男3例，女3例；中位年龄50岁）。对照组29例（男性8例，女性21例，平均年龄43.4±14.3）。所有研究对象均针对HLA II类单倍型进行了分子分型。HLA-DRB1 * 16（17％vs对照组3％; Py = 0.02）和HLA-DQB1 * 05（42％vs对照组24％; Py = 0.010）的频率，与对照组相比，ADEM人群中的HLA-DRB1 * 16 / HLA-DQB1 * 05关联显着增加。ADEM中HLA-DRB1 *位点的13-04（P <0.01）和纯合14（P <0.05）等位基因的等位基因频率以及HLA-DQB *位点的05-02（P <0.05）等位基因的等位基因频率也增加耐心。我们的初步数据提供了进一步的证据，表明高加索人群中HLA-DR / DQ单倍型可能参与中枢神经系统免疫介导的脱髓鞘疾病的易感性。