Two novel variants in signal transduction and activator of transcription 1 (STAT1) coiled-coil region cause STAT1 gain of function in an infant presenting with Pneumocystis jiroveci pneumonia (PJP) and CMV viremia

Abstract

Gain-of-function (GOF) mutations in STAT1 are associated with a diverse phenotype, including chronic mucocutaneous candidiasis and autoimmunity. We report a 5-month-old boy presenting with PJP, CMV viremia, and immune-mediated hepatitis with novel compound heterozygous in-frame deletions in the coiled-coil region of STAT1.