Gain-of-function (GOF) mutations affecting the coiled-coil domain or the DNA-binding domain of signal transducer and activator of transcription 1 (STAT1) cause chronic mucocutaneous candidiasis disease. This condition is characterized by fungal and bacterial infections caused by impaired generation of TH17 cells; meanwhile, some patients with chronic mucocutaneous candidiasis disease might also have viral or intracellular pathogen infections.

Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations

TAMASSIA, Nicola;GASPERINI, Sara;CASSATELLA, Marco Antonio;
2017-01-01

Abstract

Gain-of-function (GOF) mutations affecting the coiled-coil domain or the DNA-binding domain of signal transducer and activator of transcription 1 (STAT1) cause chronic mucocutaneous candidiasis disease. This condition is characterized by fungal and bacterial infections caused by impaired generation of TH17 cells; meanwhile, some patients with chronic mucocutaneous candidiasis disease might also have viral or intracellular pathogen infections.
2017
IL-15; Natural killer cells; candidiasis; cytotoxic activity; signal transducer and activator of transcription 1; signal transducer and activator of transcription 5
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/963819
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