Inborn errors of STAT1 immunity

Signal transducer and activator of transcription 1 (STAT1) is a latent cytoplasmic transcription factor that is activated by multiple stimuli, including type I, II, and III interferons and interleukin-27. Inborn errors of human STAT1 immunity underlie 4 distinct disorders: autosomal recessive (AR) complete STAT1 deficiency, AR partial STAT1 deficiency, autosomal dominant (AD) STAT1 deficiency, and AD STAT1 gain-of-function. Each disease presents distinct clinical manifestations, excluding the difference in two AR STAT1 deficiencies, which are mainly explained by severity. This observation reflects the multiple and complex roles of STAT1 and how STAT1-mediated signaling is finely tuned in host immune systems.…