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• W2079821392 abstract "Severe combined immunodeficiency diseases (SCIDs) are a group of primary immunodeficiencies characterized by profoundly impaired cell-mediated and humoral responses [1, 2]. Affected children typically fail to thrive and become ill with recurrent infections caused by bacteria, viruses, and opportunistic pathogens. The molecular defects have now been identified for the majority of SCID phenotypes and are summarized in Table 1-1 [3–27]. The defects affect lymphocyte receptors [28], signal transduction molecules [29], transcription factors [30], and enzymes of purine metabolism such as adenosine deaminase (ADA) [31] and purine nucleoside phosphorilase (PNP) [32]. The identification, cloning, and expression of the genes responsible for the different forms of SCID renders them potentially curable with somatic cell gene therapy. The ideal approach to gene therapy would require efficient gene transfer into the stem cell of the hematopoietic system, thus allowing the appropriate expression of the normal gene into the affected cells of hematopoietic or lymphoid lineage [33–35]. However, initial difficulties in obtaining efficient transduction of stem cells have led several investigators to approach gene transfer directly into differentiated lymphocytes [36–38]. Gene transfer into cells of the lymphohematopoietic system for SCID is currently based on the use of retroviral vectors [33]. ADA-deficiency was the first genetic disorder to be treated with retroviral-mediated gene transfer and, to date, the only SCID treated. Here, we will review the most recent advances in gene therapy of different SCIDs, with particular regard to ADA-deficient SCID (ADA− SCID), the prototype of immunodeficiencies amenable to gene therapy." @default.
• W2079821392 created "2016-06-24" @default.
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• W2079821392 date "1999-01-01" @default.
• W2079821392 modified "2023-09-25" @default.
• W2079821392 title "Gene Therapy for Severe Combined Immunodeficiencies" @default.
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• W2079821392 doi "https://doi.org/10.1007/978-3-0348-7011-5_8" @default.
• W2079821392 hasPublicationYear "1999" @default.
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