phs002074
Gene therapy normalizes the IgH repertoire in ADA deficiency.
Adenosine deaminase (ADA) deficiency causes severe combined immunodeficiency (SCID) through an accumulation of toxic metabolites within lymphocytes. Recently, ADA deficiency has been successfully treated using lentiviral-transduced autologous CD34+ cells carrying the ADA gene. T and B cell function appears to be fully restored but in many patients' B cell numbers remain low and assessments of the immunoglobulin heavy (IgH) repertoire following gene therapy are lacking. This report is a proof of concept study using deep sequencing of IgH repertoire in peripheral blood lymphocytes from a child following lentivirus-based gene therapy for ADA deficiency, compared to the IgH repertoire in healthy infants and adults. After gene therapy, Ig diversity normalized as evidenced by V, D, and J gene... (for more see dbGaP study page.)