TY - JOUR
T1 - Progressive multifocal leukoencephalopathy in an immunocompetent patient
AU - van der Kolk, Nicolien M.
AU - Arts, Peer
AU - van Uden, Ingeborg W. M.
AU - Hoischen, Alexander
AU - van de Veerdonk, Frank L.
AU - Netea, Mihai G.
AU - de Jong, Brigit A.
PY - 2016/3
Y1 - 2016/3
N2 - 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.
AB - 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.
U2 - https://doi.org/10.1002/acn3.279
DO - https://doi.org/10.1002/acn3.279
M3 - Article
C2 - 27042682
SN - 2328-9503
VL - 3
SP - 226
EP - 232
JO - Annals of clinical and translational neurology
JF - Annals of clinical and translational neurology
IS - 3
ER -