Progressive multifocal leukoencephalopathy in an immunocompetent patient

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 exom...

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Bibliographic Details
Published in:Annals of clinical and translational neurology 2016-03, Vol.3 (3), p.226-232
Main Authors: Kolk, Nicolien M., Arts, Peer, Uden, Ingeborg W. M., Hoischen, Alexander, Veerdonk, Frank L., Netea, Mihai G., Jong, Brigit A.
Format: Article
Language:English
Subjects:
Antigens
Aphasia
Brief Communication
Encephalitis
Family medical history
Genes
Grants
Immunocompetence
Laboratories
Ligands
MicroRNAs
Patients
Production capacity
Viral infections
Viruses
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Summary: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.
ISSN:2328-9503
2328-9503
DOI:10.1002/acn3.279