Article
Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America - 15 Apr 2016
Zerbe Christa S, Marciano Beatriz E, Katial Rohit K, Santos Carah B, Adamo Nick, Hsu Amy P, Hanks Mary E, Darnell Dirk N, Quezado Martha M, Frein Cathleen, Barnhart Lisa A, Anderson Victoria L, Uzel Gulbu, Freeman Alexandra F, Lisco Andrea, Nath Avindra, Major Eugene O, Sampaio Elizabeth P, Holland Steven M
Abstract excerpt
BACKGROUND: Progressive multifocal leukoencephalopathy (PML) is a rare, severe, otherwise fatal viral infection of the white matter of the brain caused by the polyomavirus JC virus, which typically occurs only in immunocompromised patients. One patient with dominant gain-of-function (GOF) mutation in signal transducer and activator of transcription 1 (STAT1) with chronic mucocutaneous candidiasis and PML was...
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