Submitted November 21, 2006
Accepted February 27, 2007
Gene therapy improves immune function in pre-adolescents with X-linked severe combined immunodeficiency
Javier Chinen, Joie Davis, Suk See De Ravin, Beverly N. Hay, Amy P. Hsu, Gilda F. Linton, Nora Naumann, Effie Y.H. Nomicos, Christopher Silvin, Jean Ulrick, Narda L. Whiting-Theobald, Harry L. Malech*, and Jennifer M. Puck
Genetics & Molecular Biology Branch, National Human Genome Research Institute, NIH, DHHS, Bethesda, MD, United States
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, NIH, DHHS, Bethesda, MD, United States
* Corresponding author; email: hmalech{at}nih.gov.
Retroviral gene therapy can restore immunity to infants with X-linked severe combined immunodeficiency (XSCID) caused by mutations in the IL2RG gene encoding the common gamma chain (
c) of receptors for interleukins (IL)-2, -4, -7, -9, -15 and -21. We investigated the safety and efficacy of gene therapy as salvage treatment for older XSCID children with inadequate immune reconstitution despite prior bone marrow transplant from a parent. Subjects received retrovirus transduced autologous peripherally mobilized CD34+ hematopoietic cells. T cell function significantly improved in the youngest subject (age 10 years), and multi-lineage retroviral marking occurred in all 3 children.
