Background

Anti-N-methyl-d-aspartate receptor encephalitis (anti-NMDARE) is one of the most common types of autoimmune encephalitis. Most patients have no apparent immunologic triggers, which suggests a genetic predisposition. This study was conducted to identify human leukocyte antigen (HLA) class II alleles associated with anti-NMDARE in Thai children.

Methods

This case-control study enrolled patients younger than 18 years who were diagnosed with anti-NMDARE between January 2010 and December 2020. A “good outcome” was determined as a patient with a modified Rankin scale score of less than 2 at any follow-up visit. HLA genotypes were determined at four-digit alleles using reverse sequence-specific oligonucleotide probe hybridization. The HLA class II allele frequency in patients was compared with that in a database of 101 healthy control Thai children.

Results

Thirty-four patients were enrolled with a mean age of 12.8 ± 5.6 years (females 85.3%). The HLA-DRB1∗1502 allele frequency was significantly higher in patients than in controls (odds ratio, 2.32; 95% confidence interval, 1.11-4.8, P = 0.023). A good outcome was noted in 14 of 14 (100%) HLA-DRB1∗1502-positive patients (median time to a good outcome, 6 months) and 14 of 17 (82.3%) HLA-DRB1∗1502-negative patients (median time to a good outcome, 3 months). Two (11.8%) HLA-DRB1∗1502-positive patients had one relapse each, and six (35.3%) HLA-DRB1∗1502-negative patients had one to three relapses.

Conclusions

HLA-DRB1∗1502 was significantly associated with anti-NMDARE in our patients. Most patients had good outcomes. HLA-DRB1∗1502-positive patients tended to require a longer time to achieve a good outcome but had less frequent relapses than HLA-DRB1∗1502-negative patients.

中文翻译：

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HLA-DRB1∗1502 与泰国儿童抗 N-甲基-D-天冬氨酸受体脑炎有关

背景

抗-N-甲基-d-天冬氨酸受体脑炎（anti-NMDARE）是最常见的自身免疫性脑炎类型之一。大多数患者没有明显的免疫触发因素，这表明存在遗传倾向。本研究旨在鉴定与泰国儿童抗 NMDARE 相关的人类白细胞抗原 (HLA) II 类等位基因。

方法

这项病例对照研究纳入了 2010 年 1 月至 2020 年 12 月期间被诊断为抗 NMDARE 的 18 岁以下患者。“良好结果”被确定为在任何随访中改良 Rankin 量表评分低于 2 分的患者访问。使用反向序列特异性寡核苷酸探针杂交在四位等位基因处确定 HLA 基因型。将患者的 HLA II 类等位基因频率与 101 名健康对照泰国儿童的数据库中的频率进行比较。

结果

34 名患者入组，平均年龄为 12.8 ± 5.6 岁（女性 85.3%）。患者的 HLA-DRB1*1502 等位基因频率显着高于对照组（优势比，2.32；95% 置信区间，1.11-4.8，P  = 0.023）。14 名 (100%) HLA-DRB1*1502 阳性患者中的 14 名（达到良好结果的中位时间，6 个月）和 17 名 (82.3%) HLA-DRB1*1502 阴性患者中的 14 名（中位时间到一个好的结果，3个月）。2 名（11.8%）HLA-DRB1*1502 阳性患者各有 1 次复发，6 名（35.3%）HLA-DRB1*1502 阴性患者有 1 至 3 次复发。

结论

在我们的患者中，HLA-DRB1*1502 与抗 NMDARE 显着相关。大多数患者有良好的结果。HLA-DRB1*1502 阳性患者往往需要更长的时间才能达到良好的结果，但复发率低于 HLA-DRB1*1502 阴性患者。