Gene therapy techniques in the treatment of adenosine deaminase--deficiency severe combined immune deficiency syndrome.

Gene therapy is an innovative technique utilized in the treatment of a primary immunodeficiency known as severe combined immune deficiency syndrome (SCIDS). The first human trials of gene therapy for SCIDS were conducted in 1990, by attempting to insert the gene for adenosine deaminase into peripheral white blood cells to treat children with adenosine deaminase (ADA)-deficiency SCIDS. Recently, three infants with ADA-deficiency SCIDS received gene therapy with genetically manipulated hematopoietic stem cells. This clinical update reviews basic immunology function and malfunction, describes gene therapy, and specifically highlights hematopoietic stem cell gene therapy treatment for ADA-deficiency SCIDS.