Article
Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype.
Frontiers in immunology - 1 Jan 2020
Giovannozzi Simone, Lemmens Veerle, Hendrix Jelle, Gijsbers Rik, Schrijvers Rik
Abstract excerpt
Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations result in a primary immunodeficiency (PID) characterized typically by chronic mucocutaneous candidiasis (CMC), but a wider phenotypic range is reported and remains unexplained from a pathophysiological point-of-view. We hypothesized that different STAT1 GOF mutations may result in distinct molecular mechanisms, possibly...
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