(1995) Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. (1993) The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. (1993) Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Noguchi, M., Yi, H., Rosenblatt HM et al. (1992) Primary immunodeficiency diseases. (1989) Primary immunodeficiency diseases. This process is experimental and the keywords may be updated as the learning algorithm improves.Ĭooper, M., Butler J. These keywords were added by machine and not by the authors. 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. ADA-deficiency was the first genetic disorder to be treated with retroviral-mediated gene transfer and, to date, the only SCID treated. Gene transfer into cells of the lymphohematopoietic system for SCID is currently based on the use of retroviral vectors. However, initial difficulties in obtaining efficient transduction of stem cells have led several investigators to approach gene transfer directly into differentiated lymphocytes. 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. 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 defects affect lymphocyte receptors, signal transduction molecules, transcription factors, and enzymes of purine metabolism such as adenosine deaminase (ADA) and purine nucleoside phosphorilase (PNP). The molecular defects have now been identified for the majority of SCID phenotypes and are summarized in Table 1-1. Affected children typically fail to thrive and become ill with recurrent infections caused by bacteria, viruses, and opportunistic pathogens. Severe combined immunodeficiency diseases (SCIDs) are a group of primary immunodeficiencies characterized by profoundly impaired cell-mediated and humoral responses.
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