Ontology highlight
ABSTRACT:
SUBMITTER: Hernandez N
PROVIDER: S-EPMC6170168 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
The Journal of experimental medicine 20180824 10
Life-threatening pulmonary influenza can be caused by inborn errors of type I and III IFN immunity. We report a 5-yr-old child with severe pulmonary influenza at 2 yr. She is homozygous for a loss-of-function <i>IRF9</i> allele. Her cells activate gamma-activated factor (GAF) STAT1 homodimers but not IFN-stimulated gene factor 3 (ISGF3) trimers (STAT1/STAT2/IRF9) in response to IFN-α2b. The transcriptome induced by IFN-α2b in the patient's cells is much narrower than that of control cells; howev ...[more]