In the clinical setting, STAT1 GOF mutations have been linked to a permanent phosphorylated status of the transcription factor due to an impaired dephosphorylation and are associated to a broad clinical spectrum, from infection susceptibility to autoimmune manifestations, this later probably due to a strong type I IFN signaling mediated by the hyperphosphorylated STAT1 (131). The gene discussed is STAT1; the disease is infection.