Haploidentical related donor hematopoietic stem cell transplantation with post-transplantation cyclophosphamide for DOCK8 deficiency

AF Freeman, NN Shah, M Parta, HC Su… - The Journal of …, 2016 - jaci-inpractice.org
Dedicator of cytokinesis 8 (DOCK8) gene mutations are responsible for a combined
immunodeficiency characterized by atopy, sinopulmonary infections, and DNA viral
infections including varicella zoster, herpes simplex 1 and 2 (HSV 1 and 2), human
papilloma virus and molluscum contagiosum, and Epstein-Barr virus (EBV)-driven
lymphomas (reviewed in Aydin et al 1). In that study of 136 patients with DOCK8 deficiency,
the median survival at 20 years was 47%, and the event-free survival at 20 years was 18 …