Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Kate F KernanLina Ghaloul-GonzalezJerry VockleyJanette LambDeborah HollingsheadUma ChandranRahil SethiHyun-Jung ParkRobert A BergDavid WesselMurray M PollackKathleen L MeertMark W HallChristopher J L NewthJohn C LinAllan DoctorTom ShanleyTim CornellRick E HarrisonAthena F ZuppaRussel BanksRon W ReederRichard HolubkovDaniel A NottermanJ Michael DeanJoseph A Carcillo

Published in: Journal of clinical immunology (2022)

Herein, we describe the genetic findings in this severe pediatric sepsis cohort and their microbiologic and immunologic significance, providing evidence for the phenotypic effect of these variants and rationale for screening children with life-threatening infections for potential inborn errors of immunity.

Keyphrases

copy number
young adults
acute kidney injury
intensive care unit
septic shock
early onset
risk factors
clinical trial
patient safety
gene expression
drug induced
electronic health record