Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease - PubMed (original) (raw)

Clinical Trial

. 2000 Apr 28;288(5466):669-72.

doi: 10.1126/science.288.5466.669.

S Hacein-Bey, G de Saint Basile, F Gross, E Yvon, P Nusbaum, F Selz, C Hue, S Certain, J L Casanova, P Bousso, F L Deist, A Fischer

Affiliations

Clinical Trial

Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease

M Cavazzana-Calvo et al. Science. 2000.

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 gammac 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 gammac Moloney retrovirus-derived vector and ex vivo infection of CD34+ cells. After a 10-month follow-up period, gammac 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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