title: Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B.
abstract: 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.
authors.affiliation: Division of Research Immunology/Bone Marrow Transplantation, Childrens Hospital Los Angeles, CA 90027, USA. ashah@chla.usc.edu
authors.forename: Ami J
authors.initials: AJ
authors.lastname: Shah
authors.forename: Neena
authors.initials: N
authors.lastname: Kapoor
authors.forename: Gay M
authors.initials: GM
authors.lastname: Crooks
authors.forename: Robertson
authors.initials: R
authors.lastname: Parkman
authors.forename: Kenneth I
authors.initials: KI
authors.lastname: Weinberg
authors.forename: Kathy
authors.initials: K
authors.lastname: Wilson
authors.forename: Donald B
authors.initials: DB
authors.lastname: Kohn
mesh_terms: 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