A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis
Keywords: CMC, chronic mucocutaneous candidiasis; STAT1, signal transducer and activator of transcription 1; P-STAT1, phosphorylated STAT1; GOF, gain-of-function; CCD, coiled-coil domain; DBD, DNA binding domain; IL, interleukin; IFN, interferon; IP-10, IFN-gamma-i