Open AccessProgressive multifocal leukoencephalopathy in an immunocompetent patient
Author(s) -
Kolk Nicolien M.,
Arts Peer,
Uden Ingeborg W. M.,
Hoischen Alexander,
Veerdonk Frank L.,
Netea Mihai G.,
Jong Brigit A.
Publication year - 2016
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.279
Subject(s) - progressive multifocal leukoencephalopathy , medicine , jc virus , demyelinating disease , exome sequencing , slow virus , cytokine , immunology , antigen , disease , virology , virus , mutation , pathology , genetics , biology , gene
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 .