Impaired NK cell functions in patients with STAT1 gain-of-function mutations

Gain-of-function (GOF) mutations of the Signal Transducer and Activator of Transcription 1 (STAT1) resulting in increased phosphorylation of the protein lead to chronic mucocutaneous candidiasis disease (CMCD). Abnormal signaling of STAT1 results in impaired response of NK cells to IL-15, leading to defects of proliferation, IFN-γ production and cytolytic activity that may contribute to the increased susceptibility of patients with STAT1-GOF mutations to viruses and intracellular pathogens.

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