Titre
Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report
Type
étude de cas
Institution
Externe
Périodique
Auteur(s)
Engel, B. C.
Auteure/Auteur
Podsakoff, G. M.
Auteure/Auteur
Ireland, J. L.
Auteure/Auteur
Smogorzewska, E. M.
Auteure/Auteur
Carbonaro, D. A.
Auteure/Auteur
Wilson, K.
Auteure/Auteur
Shah, A.
Auteure/Auteur
Kapoor, N.
Auteure/Auteur
Sweeney, M.
Auteure/Auteur
Borchert, M.
Auteure/Auteur
Crooks, G. M.
Auteure/Auteur
Weinberg, K. I.
Auteure/Auteur
Parkman, R.
Auteure/Auteur
Rosenblatt, H. M.
Auteure/Auteur
Wu, S. Q.
Auteure/Auteur
Hershfield, M. S.
Auteure/Auteur
Candotti, F.
Auteure/Auteur
Kohn, D. B.
Auteure/Auteur
Liens vers les personnes
ISSN
0006-4971
Statut éditorial
Publié
Date de publication
2007
Volume
109
Numéro
2
Première page
503
Dernière page/numéro d’article
6
Langue
anglais
Notes
Engel, Barbara C
Podsakoff, Greg M
Ireland, Joanna L
Smogorzewska, E Monika
Carbonaro, Denise A
Wilson, Kathy
Shah, Ami
Kapoor, Neena
Sweeney, Mirna
Borchert, Mark
Crooks, Gay M
Weinberg, Kenneth I
Parkman, Robertson
Rosenblatt, Howard M
Wu, Shi-Qi
Hershfield, Michael S
Candotti, Fabio
Kohn, Donald B
eng
Intramural NIH HHS/
HL54850/HL/NHLBI NIH HHS/
M01 RR-43/RR/NCRR NIH HHS/
P50 HL054850/HL/NHLBI NIH HHS/
R01 DK020902/DK/NIDDK NIH HHS/
DK20902/DK/NIDDK NIH HHS/
Case Reports
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Blood. 2007 Jan 15;109(2):503-6. Epub 2006 Sep 14.
Podsakoff, Greg M
Ireland, Joanna L
Smogorzewska, E Monika
Carbonaro, Denise A
Wilson, Kathy
Shah, Ami
Kapoor, Neena
Sweeney, Mirna
Borchert, Mark
Crooks, Gay M
Weinberg, Kenneth I
Parkman, Robertson
Rosenblatt, Howard M
Wu, Shi-Qi
Hershfield, Michael S
Candotti, Fabio
Kohn, Donald B
eng
Intramural NIH HHS/
HL54850/HL/NHLBI NIH HHS/
M01 RR-43/RR/NCRR NIH HHS/
P50 HL054850/HL/NHLBI NIH HHS/
R01 DK020902/DK/NIDDK NIH HHS/
DK20902/DK/NIDDK NIH HHS/
Case Reports
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Blood. 2007 Jan 15;109(2):503-6. Epub 2006 Sep 14.
Résumé
A patient with adenosine deaminase-deficient severe combined immune deficiency (ADA-SCID) was enrolled in a study of retroviral-mediated ADA gene transfer to bone marrow hematopoietic stem cells. After the discontinuation of ADA enzyme replacement, busulfan (75 mg/m2) was administered for bone marrow cytoreduction, followed by infusion of autologous, gene-modified CD34+ cells. The expected myelosuppression developed after busulfan but then persisted, necessitating the administration of untransduced autologous bone marrow back-up at day 40. Because of sustained pancytopenia and negligible gene marking, diagnostic bone marrow biopsy and aspirate were performed at day 88. Analyses revealed hypocellular marrow and, unexpectedly, evidence of trisomy 8 in 21.6% of cells. Trisomy 8 mosaicism (T8M) was subsequently diagnosed by retrospective analysis of a pretreatment marrow sample that might have caused the lack of hematopoietic reconstitution. The confounding effects of this preexisting marrow cytogenetic abnormality on the response to gene transfer highlights another challenge of gene therapy with the use of autologous hematopoietic stem cells.
PID Serval
serval:BIB_04B977317058
PMID
Open Access
Oui
Date de création
2017-11-01T09:29:21.834Z
Date de création dans IRIS
2025-05-20T15:15:55Z