A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation—a case report and review of the literature
C Burns, A Cheung, Z Stark, S Choo… - The Journal of …, 2016 - jaci-inpractice.org
We present an infant with a novel homozygous, loss-offunction signal transducer and
activator of transcription 1 (STAT-1) mutation, revealed by whole-exome sequencing and
manifesting as multisystem hyperinflammation without mycobacterial disease. Autosomal-
recessive (AR) complete STAT-1 deficiency has been described only a handful of times
previously, but all have presented characteristically and dramatically during infancy with
disseminated nonvirulent mycobacterial disease. 1-3 We add a novel presentation of …
activator of transcription 1 (STAT-1) mutation, revealed by whole-exome sequencing and
manifesting as multisystem hyperinflammation without mycobacterial disease. Autosomal-
recessive (AR) complete STAT-1 deficiency has been described only a handful of times
previously, but all have presented characteristically and dramatically during infancy with
disseminated nonvirulent mycobacterial disease. 1-3 We add a novel presentation of …