Novel genetic variants of inborn errors of immunity.

Farida AlmarzooqiAbdul-Kader SouidRanjit VijayanSuleiman Al-Hammadi

Published in: PloS one (2021)

The described novel pathogenic variants are core to a planned national screening program that aims toward IEI prevention. Future studies, however, are needed to confirm their natural history in individual patients and estimate their prevalence in the community.

Keyphrases

end stage renal disease
quality improvement
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
mental health
risk factors
prognostic factors
patient safety
gene expression
emergency department
current status
dna methylation
patient reported outcomes
genome wide
adverse drug
case control