Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B.
Histocompatible hematopoietic stem cell transplantation (HSCT) was conducted on a 4.5-year-old girl with Niemann-Pick disease type B. The donor was her unaffected brother. At the time of transplantation, she had severe pulmonary disease. After her first HSCT, she developed graft failure. Five years after her second HSCT, her sphingomyelinase levels are within normal levels, she has no pulmonary symptoms, and aside from persistent graft versus host disease, she is doing well.
Shah
Ami J
AJ
Division of Research Immunology/Bone Marrow Transplantation, Childrens Hospital Los Angeles, CA 90027, USA. ashah@chla.usc.edu
Kapoor
Neena
N
Crooks
Gay M
GM
Parkman
Robertson
R
Weinberg
Kenneth I
KI
Wilson
Kathy
K
Kohn
Donald B
DB
D002675:Child, Preschool; D005260:Female; D006084:Graft Rejection; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008297:Male; D009542:Niemann-Pick Diseases / Q000628:therapy*; D019233:Retreatment; D019172:Transplantation Conditioning