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Gene Therapy of Human Severe Combined Immunodeficiency (SCID)-X1 Disease
Abstract
Severe combined immunodeficiency–X1 (SCID-X1) is an X-linked inherited disorder characterized by an early block in T and natural killer (NK) lymphocyte differentiation. This block is caused by mutations of the gene encoding the γc cytokine receptor subunit of interleukin-2, -4, -7, -9, and -15 receptors, which participates in the delivery of growth, survival, and differentiation signals to early lymphoid progenitors. After preclinical studies, a gene therapy trial for SCID-X1 was initiated, based on the use of complementary DNA containing a defective γc Moloney retrovirus–derived vector and ex vivo infection of CD34 + cells. After a 10-month follow-up period, γc transgene–expressing T and NK cells were detected in two patients. T, B, and NK cell counts and function, including antigen-specific responses, were comparable to those of age-matched controls. Thus, gene therapy was able to provide full correction of disease phenotype and, hence, clinical benefit.
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“The earliest successful human gene therapy trials by Aiuti et al. 13 and Cavazzana-Calvo et al. 14 utilized γ-RVV and many of the techniques developed in the 1980s.”
From Ex vivo modification of hematopoietic stem and progenitor cells for gene therapy (2025) · cites this paper as [14]
In the citing paper
“The IL2RG gene was cloned in the mid-1990's and investigators at Hôpital Necker Enfants Malades in Paris treated XSCID patients by transducing their bone marrow HSCs with a γ-retroviral vector carrying a normal IL2RG cDNA and reinfusing the cells without prior conditioning.14”
From Ex vivo modification of hematopoietic stem and progenitor cells for gene therapy (2025) · cites this paper as [14]
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Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1
Hacein-Bey-Abina, S., Garrigue, A., Wang, G. P., Soulier, J., Lim, A., Morillon, E., Clappier, E., Caccavelli, L., Delabesse, E., Beldjord, K., et al. (2008) · Journal of Clinical Investigation · doi:10.1172/jci35700 · Cited by 1,854
Self-citation
Metadata
- Authors
- Cavazzana-Calvo, M., Hacein-Bey, S., Basile, G. D. S., Gross, F., Yvon, E., Nusbaum, P., Selz, F., Hue, C., Certain, S., Casanova, J.-L., Bousso, P., Deist, F. L., & Fischer, A.
- Affiliations
- INSERM Unit 429,
- Gene Therapy Laboratory,
- Cell Therapy Laboratory,
- INSERM Unit 277, Institut Pasteur, 75730 Paris, France.
- Venue
- Science
- Published
- 2000-04-28
- Volume
- 288
- Issue
- 5466
- Pages
- 669-672
- ISSN
- 0036-8075
- 1095-9203
- Cited by
- 2,167
- References
- 0
- Language
- en
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- CoChat. (2026). Citation check: Gene Therapy of Human Severe Combined Immunodeficiency (SCID)-X1 Disease. https://app.cochat.ai/papers/10.1126/science.288.5466.669
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- Cavazzana-Calvo, M., Hacein-Bey, S., Basile, G. D. S., Gross, F., Yvon, E., Nusbaum, P., Selz, F., Hue, C., Certain, S., Casanova, J.-L., Bousso, P., Deist, F. L., & Fischer, A. (2000). Gene Therapy of Human Severe Combined Immunodeficiency (SCID)-X1 Disease. Science. https://doi.org/10.1126/science.288.5466.669
