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Gene Therapy of Human Severe Combined Immunodeficiency (SCID)-X1 Disease

Cavazzana-Calvo, Marina, Hacein-Bey, Salima, Basile, Geneviève de Saint, Gross, Fabian, Yvon, Eric, Nusbaum, Patrick, Selz, Françoise, Hue, Christophe, Certain, Stéphanie, Casanova, Jean-Laurent, Bousso, Philippe, Deist, Françoise Le, Fischer, Alain·2000·Science
DOI 10.1126/science.288.5466.669
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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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Research works printed but not linked: 27

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Cited by

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
Publisher
American Association for the Advancement of Science (AAAS)
Published
2000-04-28
Volume
288
Issue
5466
Pages
669-672
ISSN
  • 0036-8075
  • 1095-9203
DOI
10.1126/science.288.5466.669
Cited by
2,167
References
0
Language
en

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