Thakar MS, Logan BR, Puck JM, et al. Measuring the Effect of Newborn Screening on Survival After Haematopoietic Cell Transplantation for Severe Combined Immunodeficiency: A 36-Year Longitudinal Study from the Primary Immune Deficiency Treatment Consortium. The Lancet. 2023; 402 (10396): P129 (doi: 10.1016/S0140-6736(23)00731-6).

A 36-year longitudinal study by the Primary Immune Deficiency Treatment Consortium (PIDTC) found that population-based newborn screening for severe combined immunodeficiency (SCID) led to prompt treatment, before infections occurred, resulting in greater survival. Researchers evaluated data for SCID patients who underwent allogeneic hematopoietic cell transplant (HCT) at 34 U.S. and Canadian PIDTC sites across the time intervals of 1982-89, 1990-99, 2000-09, and 2010-18. The 5-year overall survival rate among 902 children with confirmed SCID remained consistent at 72%-73% for 28 years; however, that increased to 87% at 2010-18, when newborn screening was in effect at the sites. The rate was 92.5% among children identified as having SCID by newborn screening since 2010, compared with.79.9% among children identified by clinical illness and 85.4% among children flagged by family history in the same period. Lower overall survival across all time intervals correlated with active infection, age 3-5 months or older at HCT, Black or African-American race, and certain SCID genotypes. Multivariable analysis showed the survival benefits of HCT after 2010 ended after adjusting for several factors, demonstrating that younger age and no active infections at HCT due to newborn screening primarily improved overall survival. The findings could lead to more widespread newborn screening for SCID globally, according to the researchers.

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Tags: GVHD, HCT, Survival, Infant, graft-versus-host disease, survival rate, graft-versus-host