title: In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI).
abstract: BACKGROUND
  X-linked severe combined immunodeficiency (SCIDXI) is an inherited immune defect which leads to death in infancy from severe infections. The defect is caused by mutations of the IL-2RG gene that encodes for the common gamma chain shared by several cytokine receptors. The disease is characterised by lack of T and NK cells with normal numbers of B cells. SCIDXI can be cured by bone marrow transplantation (BMT) or prevented by abortion after prenatal diagnosis.
  
  
  METHODS
  A male fetus was diagnosed as having SCIDXI by molecular, immunophenotypic, and functional analyses. The fetus was injected intraperitoneally under ultrasound guidance with CD34 haematopoietic progenitor cells purified from paternal bone marrow and T-cell depleted by E rosetting. Chimerism analysis was by HLA-DQ alpha typing and gamma-chain staining on cord blood.
  
  
  RESULTS
  A healthy 3.6 kg boy was delivered by caesarean section at 38 weeks of gestation with no clinical or laboratory signs of graft-versus-host disease. Engraftment of donor-derived CD2 cells was found at birth. At 3.5 months of age the infant is well and his T-cell counts and function are normal.
  
  
  CONCLUSIONS
  In-utero transplantation of haematopoietic progenitor cells allowed immune reconstitution of a fetus with SCIDXI and may be an alternative to elective abortion. Our report should encourage applications of this method to other inherited disorders curable by BMT.
authors.affiliation: Department of Paediatrics, University of Brescia, Italy.
authors.forename: G S
authors.initials: GS
authors.lastname: Wengler
authors.forename: A
authors.initials: A
authors.lastname: Lanfranchi
authors.forename: T
authors.initials: T
authors.lastname: Frusca
authors.forename: R
authors.initials: R
authors.lastname: Verardi
authors.forename: A
authors.initials: A
authors.lastname: Neva
authors.forename: D
authors.initials: D
authors.lastname: Brugnoni
authors.forename: S
authors.initials: S
authors.lastname: Giliani
authors.forename: M
authors.initials: M
authors.lastname: Fiorini
authors.forename: P
authors.initials: P
authors.lastname: Mella
authors.forename: F
authors.initials: F
authors.lastname: Guandalini
authors.forename: E
authors.initials: E
authors.lastname: Mazzolari
authors.forename: S
authors.initials: S
authors.lastname: Pecorelli
authors.forename: L D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: F
authors.initials: F
authors.lastname: Porta
authors.forename: A G
authors.initials: AG
authors.lastname: Ugazio
mesh_terms: D018952:Antigens, CD34; D001854:Bone Marrow Cells; D005260:Female; D005312:Fetal Blood / Q000166:cytology; D005315:Fetal Diseases / Q000175:diagnosis / Q000628:therapy*; D005323:Fetal Monitoring; D005500:Follow-Up Studies; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000196:embryology / Q000628:therapy*
chemical_list: D018952:Antigens, CD34