Gene Therapy Restores Immunity in Children and Young Adults with Rare Immunodeficiency

Saturday, December 5, 2015

Gene therapy can safely rebuild the immune systems of older children and young adults with X-linked severe combined immunodeficiency (SCID-X1), a rare inherited disorder that primarily affects males, scientists from the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, have found. NIAID’s Suk See De Ravin, M.D., Ph.D., is scheduled to describe the findings at the 57th American Society of Hematology Annual Meeting in Orlando, Florida.

SCID-X1 is caused by mutations in the IL2RG gene that prevent infection-fighting immune cells from developing and functioning normally, leaving affected infants highly susceptible to life-threatening infections. Transplantation of blood-forming stem cells, ideally from a genetically matched sibling donor, is a lifesaving treatment for infants with SCID-X1. Those without a matched sibling often receive stem cells from a parent, which only partially restores immunity. Such patients require lifelong treatment and may continue to experience complex medical problems, including chronic infections.