Immune Reconstitution and Survival of 100 SCID Patients Post Hematopoietic Cell Transplant: A PIDTC Natural History Study | Blood Journal

Immune Reconstitution and Survival of 100 SCID Patients Post Hematopoietic Cell Transplant: A PIDTC Natural History Study | Blood Journal

NIAID-Supported Study of 100 Children with Rare Immune Deficiency Refines Approach to Treatment

Among infants with a group of rare immune disorders known as severe combined immunodeficiency, or SCID, those without an infection who proceed to a standard-of-care stem cell transplant survive at a higher rate than those who undergo the procedure when they have an infection, report scientists from the NIAID-sponsored Primary Immune Deficiency Treatment Consortium in a study published online yesterday in Blood. While overall survival rates were high in the natural history study, the findings inform best practices to ensure that early diagnosis and transplantation of blood-forming stem cells help establish a healthy immune system in children with this serious genetic disease.
Infants with SCID have a reduced or depleted number of certain functional immune cells. While they appear healthy at birth, they are prone to severe infections and usually do not survive past the age of two without treatment. Each of the 100 infants followed underwent life-saving hematopoietic cell transplantation, or HCT, and had an overall survival rate of 90% two years after the procedure. Those without an active infection at the time of HCT had an increased chance of a positive outcome, with a 95% survival rate in the same time period. The findings underscore the importance of early diagnosis and treatment of SCID before symptoms appear. Encouragingly, the study reports that 90% of U.S. newborns in 2017 were screened for the disease at birth.