Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis

EP Sampaio, AP Hsu, J Pechacek, HI Bax… - Journal of allergy and …, 2013 - Elsevier
BACKGROUND: Impaired signaling in the IFN-γ/IL-12 pathway causes susceptibility to
severe disseminated infections with mycobacteria and dimorphic yeasts. Dominant gain-of-
function mutations in signal transducer and activator of transcription 1 (STAT1) have been
associated with chronic mucocutaneous candidiasis. OBJECTIVE: We sought to identify the
molecular defect in patients with disseminated dimorphic yeast infections. METHODS:
PBMCs, EBV-transformed B cells, and transfected U3A cell lines were studied for IFN-γ/IL-12 …