USA 4yr old patient, peg-ADA treated, not responding. Peripherial T lymphocytes transduced ex vivo with retroviral vector and returned. T cells survived, immunity returned to semewhat normal levels. However, majority of work done on transplanting transduced fibroblasts which secrete the gene products. Fairly common group of disorders.
Problem here is the complex nature of globin gene regulation.
Much is known, but still having strugling to produce mini gene constructs that work. Deficiency in LDL receptor. Results in lack of LDL catabolism and thus high plasma conc of LDL and cholesterol which leads to premature coronary artery disease. Partial hepatectomy, transfection with recomb. Hepatocytes returned to the liver and have LDL receptors on surface.