In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI)

Georg S. Wengler, Arnalda Lanfranchi, Tiziana Frusca, Rosanna Verardi, Arabella Neva, Duilio Brugnoni, Silvia Giliani, Maurilia Fiorini, Patrizia Mella, Fabiola Guandalini, Evelina Mazzolari, Sergio Pecorelli, Luigi D. Notarangelo, Fulvio Porta, Alberto G. Ugazio

Research output: Contribution to journalArticle

215 Citations (Scopus)

Abstract

Background. X-linked severe combined immunodeficiency (SCIDXI) is an inherited immune effect 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 γ 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-DQα typing and γ-chain staining on cord blood. Findings. 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. Interpretation. In-utero transplantation of haematopoietic progenitor cells allowed immune resonstitution 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.

Original languageEnglish
Pages (from-to)1484-1487
Number of pages4
JournalLancet
Volume348
Issue number9040
DOIs
Publication statusPublished - Nov 30 1996

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X-Linked Combined Immunodeficiency Diseases
Hematopoietic Stem Cells
Fetus
Transplantation
Bone Marrow Transplantation
T-Lymphocytes
HLA-DQ Antigens
Histocompatibility Testing
Chimerism
Cytokine Receptors
Graft vs Host Disease
Prenatal Diagnosis
Fetal Blood
Cesarean Section
Natural Killer Cells
Bone Marrow Cells
B-Lymphocytes
Cell Count
Tissue Donors
Parturition

ASJC Scopus subject areas

  • Medicine(all)

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Wengler, G. S., Lanfranchi, A., Frusca, T., Verardi, R., Neva, A., Brugnoni, D., ... Ugazio, A. G. (1996). In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI). Lancet, 348(9040), 1484-1487. https://doi.org/10.1016/S0140-6736(96)09392-0

In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI). / Wengler, Georg S.; Lanfranchi, Arnalda; Frusca, Tiziana; Verardi, Rosanna; Neva, Arabella; Brugnoni, Duilio; Giliani, Silvia; Fiorini, Maurilia; Mella, Patrizia; Guandalini, Fabiola; Mazzolari, Evelina; Pecorelli, Sergio; Notarangelo, Luigi D.; Porta, Fulvio; Ugazio, Alberto G.

In: Lancet, Vol. 348, No. 9040, 30.11.1996, p. 1484-1487.

Research output: Contribution to journalArticle

Wengler, GS, Lanfranchi, A, Frusca, T, Verardi, R, Neva, A, Brugnoni, D, Giliani, S, Fiorini, M, Mella, P, Guandalini, F, Mazzolari, E, Pecorelli, S, Notarangelo, LD, Porta, F & Ugazio, AG 1996, 'In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI)', Lancet, vol. 348, no. 9040, pp. 1484-1487. https://doi.org/10.1016/S0140-6736(96)09392-0
Wengler, Georg S. ; Lanfranchi, Arnalda ; Frusca, Tiziana ; Verardi, Rosanna ; Neva, Arabella ; Brugnoni, Duilio ; Giliani, Silvia ; Fiorini, Maurilia ; Mella, Patrizia ; Guandalini, Fabiola ; Mazzolari, Evelina ; Pecorelli, Sergio ; Notarangelo, Luigi D. ; Porta, Fulvio ; Ugazio, Alberto G. / In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI). In: Lancet. 1996 ; Vol. 348, No. 9040. pp. 1484-1487.
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AU - Wengler, Georg S.

AU - Lanfranchi, Arnalda

AU - Frusca, Tiziana

AU - Verardi, Rosanna

AU - Neva, Arabella

AU - Brugnoni, Duilio

AU - Giliani, Silvia

AU - Fiorini, Maurilia

AU - Mella, Patrizia

AU - Guandalini, Fabiola

AU - Mazzolari, Evelina

AU - Pecorelli, Sergio

AU - Notarangelo, Luigi D.

AU - Porta, Fulvio

AU - Ugazio, Alberto G.

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N2 - Background. X-linked severe combined immunodeficiency (SCIDXI) is an inherited immune effect 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 γ 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-DQα typing and γ-chain staining on cord blood. Findings. 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. Interpretation. In-utero transplantation of haematopoietic progenitor cells allowed immune resonstitution 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.

AB - Background. X-linked severe combined immunodeficiency (SCIDXI) is an inherited immune effect 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 γ 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-DQα typing and γ-chain staining on cord blood. Findings. 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. Interpretation. In-utero transplantation of haematopoietic progenitor cells allowed immune resonstitution 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.

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