{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T07:36:53Z","timestamp":1761896213391},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,1,8]],"date-time":"2016-01-08T00:00:00Z","timestamp":1452211200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003246","name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003246","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["#310372"],"award-info":[{"award-number":["#310372"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Progressive multifocal leukoencephalopathy (<jats:styled-content style=\"fixed-case\">PML<\/jats:styled-content>), a demyelinating disease of the brain, is typically diagnosed in immunocompromised persons. Here, we describe the diagnostic challenge of <jats:styled-content style=\"fixed-case\">PML<\/jats:styled-content> 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 <jats:styled-content style=\"fixed-case\">BCL<\/jats:styled-content>\u20102\u2010associated athanogene 3. Interestingly, both factors are associated with reduced expression of John Cunningham virus T\u2010antigen, 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 <jats:styled-content style=\"fixed-case\">PML<\/jats:styled-content>.<\/jats:p>","DOI":"10.1002\/acn3.279","type":"journal-article","created":{"date-parts":[[2016,1,10]],"date-time":"2016-01-10T10:35:45Z","timestamp":1452422145000},"page":"226-232","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Progressive multifocal leukoencephalopathy in an immunocompetent patient"],"prefix":"10.1002","volume":"3","author":[{"given":"Nicolien M.","family":"van der Kolk","sequence":"first","affiliation":[{"name":"Department of Neurology Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peer","family":"Arts","sequence":"additional","affiliation":[{"name":"Department of Genetics Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingeborg W. 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