Article
Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation.
Blood - 18 Aug 2011
Vairo Donatella, Tassone Laura, Tabellini Giovanna, Tamassia Nicola, Gasperini Sara, Bazzoni Flavia, Plebani Alessandro, Porta Fulvio, Notarangelo Luigi D, Parolini Silvia, Giliani Silvia, Badolato Raffaele
Abstract excerpt
Subjects affected by Signal Transducer and Activator of Transcription 1 (STAT1) deficiency have lethal bacterial and viral infections. Complete STAT1 deficiency is inherited as an autosomal recessive disease; partial STAT1 deficiency is inherited as an autosomal recessive or autosomal dominant trait. Here, we report a patient who developed disseminated mycobacteriosis early in life and had several viral...
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