Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency
Department of Pediatrics
Gene Therapy; Hematopoietic Stem Cell Transplantation; Humans; Immunity; Infant; Mutation; Receptors, Interleukin-2; Retroviridae; T-Lymphocytes; Transduction, Genetic; Transplantation, Autologous; X-Linked Combined Immunodeficiency Diseases
Genetics and Genomics | Medical Genetics | Pediatrics
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 (gammac) of receptors for interleukins 2 (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 multilineage retroviral marking occurred in all 3 children.
DOI of Published Version
Blood. 2007 Jul 1;110(1):67-73. Epub 2007 Mar 16. Link to article on publisher's site
Chinen J, Davis J, De Ravin S, Hay BN, Hsu AP, Linton GF, Naumann N, Nomicos EY, Silvin C, Ulrick J, Whiting-Theobald NL, Malech HL, Puck JM. (2007). Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency. Genetics. https://doi.org/10.1182/blood-2006-11-058933. Retrieved from https://escholarship.umassmed.edu/peds_genetics/14