A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45
New England Journal of Medicine
The New England Journal of Medicine
The New England Journal of Medicine, Vol. 369, No. 1, July 4, 2013, pp. 54-65
Seven children in five families were found to have homozygous mutations in a gene associated with vacuolar protein sorting, VPS45, which regulates endosomal membrane trafficking. Five of the seven children have died of overwhelming infection.