Progressive multifocal leukoencephalopathy in an immunocompetent patient

Nicolien M. van der Kolk, Peer Arts, Ingeborg W. M. van Uden, Alexander Hoischen, Frank L. van de Veerdonk, Mihai G. Netea, Brigit A. de Jong

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16 Citations (Scopus)


Progressive multifocal leukoencephalopathy (PML), a demyelinating disease of the brain, is typically diagnosed in immunocompromised persons. Here, we describe the diagnostic challenge of PML in an apparently immunocompetent patient. Thorough analyses, including cytokine release assays and whole exome sequencing, revealed a deficit in the antiviral interferon gamma production capacity of this patient and compound heterozygous mutations in BCL‐2‐associated athanogene 3. Interestingly, both factors are associated with reduced expression of John Cunningham virus T‐antigen, a protein that plays a key role in viral replication in infected cells. After validation in other patients, our findings may contribute to novel insights into the etiology and possibly treatment of PML.
Original languageEnglish
Pages (from-to)226-232
JournalAnnals of Clinical and Translational Neurology
Issue number3
Publication statusPublished - Mar 2016

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