期刊
BLOOD
卷 109, 期 2, 页码 503-506出版社
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2006-06-031476
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- Intramural NIH HHS Funding Source: Medline
- NCRR NIH HHS [M01 RR-43] Funding Source: Medline
- NHLBI NIH HHS [P50 HL054850, HL54850] Funding Source: Medline
- NIDDK NIH HHS [DK20902, R01 DK020902] Funding Source: Medline
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 hernatopoietic stem cells. After the discontinuation of ADA enzyme replacement, busulfan (75 mg/m(2)) was administered for bone marrow cytoreduction, followed by infusion of autologous, gene-modified CD34(+) cells. The expected myelo-suppression developed after busulfan but then persisted, necessitating the administration of untranscluced 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 hematopoetic 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 hematopoetic stem cells.
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