Introduction
STAT1 [signal transducer and activator of transcription-1] is a
critical transcription factor mediating interferon signaling (1).STAT1 gene defects progress with infection susceptibility,
chronic diarrhea, and recurrent skin infections. The genetic dissection
of various human infectious diseases has led to the definition of inborn
errors of human STAT1 immunity of four types, including autosomal
recessive (AR) complete STAT1 deficiency, AR partial STAT1 deficiency,
autosomal dominant (AD) STAT1 deficiency, and AD gain of STAT1 activity
(1). Heterozygous STAT1 gain-of-function (GOF) mutations cause
autosomal dominant chronic mucocutaneous candidiasis (CMC), but have
also been associated with a much broader spectrum of infectious,
inflammatory, vascular, and neoplastic manifestations (2). These
experiments of nature neatly highlight the clinical and immunological
impact of the human genetic dissection of infectious phenotypes (1).