Progressive multifocal leukoencephalopathy in a young adult with DOCK8 deficiency: a case of JC virus reactivation in primary immunodeficiency.

IF 2 4区医学 Q3 NEUROSCIENCES

Journal of NeuroVirology Pub Date : 2025-12-01 Epub Date: 2025-11-12 DOI:10.1007/s13365-025-01279-2

Laura Naydovich, Joseph R Berger, Pavle S Milutinovic

引用次数: 0

Abstract

Progressive multifocal leukoencephalopathy (PML) is a rare, often fatal demyelinating disease of the central nervous system (CNS) caused by JC virus (JCV) reactivation in the setting of impaired cellular immunity. While commonly associated with human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) and immunosuppressive therapies, PML can also arise in primary immunodeficiency disorders. We report a case of PML in a young adult with autosomal recessive hyper-IgE syndrome (AR-HIES) due to DOCK8 deficiency, highlighting the importance of considering genetic immunodeficiencies in cases of JCV-PML without known iatrogenic or acquired causes.

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进行性多灶性白质脑病的年轻人与DOCK8缺乏症：原发性免疫缺陷JC病毒再激活的情况。

进行性多灶性脑白质病（PML）是一种罕见的，通常是致命的中枢神经系统（CNS）脱髓鞘疾病，由细胞免疫受损的JC病毒（JCV）再激活引起。虽然PML通常与人类免疫缺陷病毒/获得性免疫缺陷综合征（艾滋病毒/艾滋病）和免疫抑制疗法有关，但也可在原发性免疫缺陷疾病中出现。我们报告一例因DOCK8缺乏而患有常染色体隐性高ige综合征（AR-HIES）的年轻成人PML病例，强调在没有已知医源性或获得性原因的JCV-PML病例中考虑遗传免疫缺陷的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of NeuroVirology 医学-病毒学

CiteScore

6.60

自引率

3.10%

发文量

审稿时长

6-12 weeks

期刊介绍： The Journal of NeuroVirology (JNV) provides a unique platform for the publication of high-quality basic science and clinical studies on the molecular biology and pathogenesis of viral infections of the nervous system, and for reporting on the development of novel therapeutic strategies using neurotropic viral vectors. The Journal also emphasizes publication of non-viral infections that affect the central nervous system. The Journal publishes original research articles, reviews, case reports, coverage of various scientific meetings, along with supplements and special issues on selected subjects. The Journal is currently accepting submissions of original work from the following basic and clinical research areas: Aging & Neurodegeneration, Apoptosis, CNS Signal Transduction, Emerging CNS Infections, Molecular Virology, Neural-Immune Interaction, Novel Diagnostics, Novel Therapeutics, Stem Cell Biology, Transmissable Encephalopathies/Prion, Vaccine Development, Viral Genomics, Viral Neurooncology, Viral Neurochemistry, Viral Neuroimmunology, Viral Neuropharmacology.