title: Reduced-intensity conditioning umbilical cord blood transplantation in Nijmegen breakage syndrome.
abstract: NBS is a rare autosomal recessive congenital disorder associated with chromosome instability caused by a mutation in the NBN gene (8q21). Clinical manifestations include microcephaly, growth retardation, combined immunodeficiency, and a strong predisposition to develop (mainly lymphatic) malignancies. There is no specific treatment for patients with NBS, and the prognosis is generally poor. The therapeutic option for some patients with NBS may be HSCT. We present a case of safe and successful non-myeloablative UCB transplantation in the 19th month of the life of a female child with NBS concomitant with SCID.
authors.affiliation: Department of Transplantation, University Children's Hospital in Krakow, Krakow, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Woźniak
authors.forename: Marta
authors.initials: M
authors.lastname: Krzywoń
authors.forename: Mateusz K
authors.initials: MK
authors.lastname: Hołda
authors.forename: Jolanta
authors.initials: J
authors.lastname: Goździk
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations; D036101:Cord Blood Stem Cell Transplantation; D005260:Female; D005312:Fetal Blood / Q000166:cytology; D005838:Genotype; D006801:Humans; D007107:Immune System / Q000503:physiopathology; D007153:Immunologic Deficiency Syndromes / Q000628:therapy; D009154:Mutation; D049932:Nijmegen Breakage Syndrome / Q000276:immunology / Q000628:therapy*; D016133:Polymerase Chain Reaction; D014019:Tissue Donors; D018183:Transplantation Chimera; D019172:Transplantation Conditioning
keywords: Nijmegen breakage syndrome; reduced-intensity conditioning; severe combined immunodeficiency; stem cell transplantation; umbilical cord blood