A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review.
Suzan A AlKhaterCaroline DeswarteJean-Laurent CasanovaJacinta BustamantePublished in: Molecular genetics & genomic medicine (2020)
We identified a novel NCF2 variant located in the region interacting with RAC2 that is linked to a severe and early CGD phenotype in the setting of disseminated BCG infection. Our findings support postponing BCG vaccination until 6-12 months of age and after PID assessment.