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van der Kolk NM, Arts P, van Uden IW, et al. Progressive multifocal leukoencephalopathy in an immunocompetent patient. Ann Clin Transl Neurol. 2016;3(3):226-32doi: 10.1002/acn3.279.
van der Kolk, N. M., Arts, P., van Uden, I. W., Hoischen, A., van de Veerdonk, F. L., Netea, M. G., & de Jong, B. A. (2016). Progressive multifocal leukoencephalopathy in an immunocompetent patient. Annals of clinical and translational neurology, 3(3), 226-32. https://doi.org/10.1002/acn3.279
van der Kolk, Nicolien M, et al. "Progressive multifocal leukoencephalopathy in an immunocompetent patient." Annals of clinical and translational neurology vol. 3,3 (2016): 226-32. doi: https://doi.org/10.1002/acn3.279
van der Kolk NM, Arts P, van Uden IW, Hoischen A, van de Veerdonk FL, Netea MG, de Jong BA. Progressive multifocal leukoencephalopathy in an immunocompetent patient. Ann Clin Transl Neurol. 2016 Jan 08;3(3):226-32. doi: 10.1002/acn3.279. eCollection 2016 Mar. PMID: 27042682; PMCID: PMC4774259.
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Ann Clin Transl Neurol. 2016 Jan 08;3(3):226-32. doi: 10.1002/acn3.279. eCollection 2016 Mar.

Progressive multifocal leukoencephalopathy in an immunocompetent patient.

Annals of clinical and translational neurology

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

Affiliations

  1. Department of Neurology Radboud University Medical Center Nijmegen The Netherlands.
  2. Department of Genetics Radboud University Medical Center Nijmegen The Netherlands.
  3. Department of Internal Medicine Radboud University Medical Center Nijmegen The Netherlands.
  4. Department of Neurology Radboud University Medical Center Nijmegen The Netherlands; Department of Neurology VU University Medical Center Amsterdam The Netherlands.

PMID: 27042682 PMCID: PMC4774259 DOI: 10.1002/acn3.279

Abstract

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.

References

  1. Clin Neurol Neurosurg. 2013 Nov;115(11):2390-2 - PubMed
  2. Clin Microbiol Rev. 2012 Jul;25(3):471-506 - PubMed
  3. Lancet Neurol. 2010 Apr;9(4):438-46 - PubMed
  4. J Intern Med. 2015 Aug;278(2):203-10 - PubMed
  5. Lancet Neurol. 2010 Apr;9(4):425-37 - PubMed
  6. Case Rep Neurol. 2013 Sep 04;5(3):149-54 - PubMed
  7. J Clin Microbiol. 2005 Aug;43(8):4175-7 - PubMed
  8. J Infect Dis. 2013 Jan 1;207(1):133-6 - PubMed
  9. J Med Microbiol. 2009 Feb;58(Pt 2):253-5 - PubMed
  10. J Neurol Neurosurg Psychiatry. 2010 Mar;81(3):247-54 - PubMed
  11. Ther Drug Monit. 2013 Feb;35(1):1-3 - PubMed
  12. Ann Neurol. 2010 Sep;68(3):384-91 - PubMed
  13. N Engl J Med. 2012 Nov 15;367(20):1921-9 - PubMed
  14. J Gen Virol. 2009 Jul;90(Pt 7):1629-40 - PubMed
  15. PLoS One. 2012;7(9):e45000 - PubMed
  16. Ann Neurol. 2015 Apr;77(4):560-70 - PubMed
  17. PLoS One. 2015 Jun 10;10(6):e0129694 - PubMed
  18. BMC Neurol. 2010 May 18;10:32 - PubMed
  19. Clin Infect Dis. 2004 Sep 1;39(5):692-9 - PubMed

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