title: Successful umbilical cord blood stem cell transplantation for chronic granulomatous disease.
abstract: Chronic granulomatous disease (CGD) causes growth failure, inflammatory lung damage and often early death. Prophylactic cotrimoxazole improves medium-term survival, but cannot prevent inflammatory sequelae. We report the first patient with CGD who underwent successful HLA identical sibling umbilical cord stem cell transplantation (UCSCT) after myeloablative conditioning. The patient presented with colitis, confirmed as CGD at 2 years of age. Following BU16/CY200 conditioning, he had UCSCT from his unaffected HLA identical sister. A year post-transplant, his colitis had resolved clinically and on radioisotope scan growth has improved. Neutrophil oxidative burst was 92% normal with full donor lymphocyte reconstitution.
authors.affiliation: Newcastle upon Tyne Hospitals, NHS Trust, University of New Castle upon Tyne, UK.
authors.forename: A
authors.initials: A
authors.lastname: Bhattacharya
authors.forename: M
authors.initials: M
authors.lastname: Slatter
authors.forename: A
authors.initials: A
authors.lastname: Curtis
authors.forename: C E
authors.initials: CE
authors.lastname: Chapman
authors.forename: D
authors.initials: D
authors.lastname: Barge
authors.forename: A
authors.initials: A
authors.lastname: Jackson
authors.forename: T J
authors.initials: TJ
authors.lastname: Flood
authors.forename: M
authors.initials: M
authors.lastname: Abinun
authors.forename: A J
authors.initials: AJ
authors.lastname: Cant
authors.forename: A R
authors.initials: AR
authors.lastname: Gennery
mesh_terms: D002675:Child, Preschool; D036101:Cord Blood Stem Cell Transplantation; D006105:Granulomatous Disease, Chronic / Q000628:therapy*; D006801:Humans; D008297:Male; D009504:Neutrophils / Q000378:metabolism; D016897:Respiratory Burst