Purpose

To describe the development of progressive multifocal leukoencephalopathy (PML) in a patient with primary immune deficiency (PID) due to a NFKB1 (nuclear factor kB subunit 1) mutation, who was treated successfully with a combination of mirtazapine and mefloquine.

Methods

We’ve based the treatment of our patient on literature research and provide a review of PML in CVID patients.

Results

Only a few reports have been published on the occurrence of PML in PID. PML is mainly observed in patients with reduced cellular immunity, which was not the case in our patient. Successful treatment options in this population are limited. Though severely disabled, our patient still survives, more than 4 years after symptom onset and shows consistent improvement on MRI (magnetic resonance imaging) and CSF (cerebrospinal fluid) analysis.

Conclusion

We conclude that some patients with PML might be treatable and can show long-term survival although neurological deficits remain. Involvement of humoral immunity in the pathogenesis of PML as well as the possible role of NFKB1 mutations in response to specific pathogens deserves further investigation.

中文翻译：

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原发性免疫缺陷和 NFKB1 突变患者进行性多灶性白质脑病后的长期生存。

目的

描述因NFKB1（核因子 kB 亚基 1）突变引起的原发性免疫缺陷 (PID) 患者的进行性多灶性白质脑病 (PML) 的发展，该患者用米氮平和甲氟喹的组合成功治疗。

方法

我们根据文献研究对患者进行治疗，并对 CVID 患者的 PML 进行了回顾。

结果

关于PID中PML的发生仅发表了少数报告。PML 主要见于细胞免疫力降低的患者，而我们的患者并非如此。在这个人群中成功的治疗选择是有限的。尽管严重残疾，但我们的患者在症状出现 4 年多后仍然存活，并且在 MRI（磁共振成像）和 CSF（脑脊液）分析中显示出持续改善。

结论

我们得出的结论是，一些 PML 患者可能是可以治疗的，尽管神经功能缺损仍然存在，但可以显示出长期生存。体液免疫参与 PML 的发病机制以及 NFKB1 突变在响应特定病原体时可能发挥的作用值得进一步研究。