Newborn screening reduces survival disparities in SCID after stem cell transplant: A PIDTC report

Newborn screening reduces survival disparities in SCID after stem cell transplant: A PIDTC report.
Winestone LE, Logan BR, Liu X, Williams O, Dunn EA, Thakar MS, Kidd SA, Mousallem T, Dorsey MJ, O’Reilly RJ, Kapoor N, Forbes Satter L, Kapadia M, Jyonouchi SC, Chandra S, Ebens CL, Chellapandian D, Chaudhury S, Chen K, Dávila Saldaña BJ, Rayes A, Quigg TC, Chandrakasan S, Bednarski JJ, DeSantes KB, Teira P, Gillio AP, Eissa H, Knutsen AP, Aquino VM, Shereck EB, Moore TB, Caywood EH, Vander Lugt MT, Rozmus J, Broglie L, Yu LC, Shah AJ, Joshi AY, Buckley RH, Dara J, Oved JH, Abdel Azim H, Martinez CA, Prockop S, Sullivan KE, Bleesing JJ, Keller MD, Madden LM, Parikh S, Shenoy S, Seroogy CM, Rubin T, Licata J, Andolina JR, Kohn DB, Burroughs L, Leiding JW, Marsh RA, Notarangelo LD, Pai SY, Torgerson TR, Pulsipher MA, Heimall J, Cuvelier GDE, Griffith LM, Puck JM, Dvorak CC, Cowan MJ, Haddad E. J Hum Immun. 2026 Jul 7;2(5):e20250231. doi: 10.70962/jhi.20250231. eCollection 2026 Sep 7. PMID: 42416786

Publication Abstract

Black race and Hispanic ethnicity are associated with higher mortality in severe combined immunodeficiency (SCID) following hematopoietic cell transplantation (HCT), though mechanisms remain unclear. We evaluated 796 children with SCID who received nonsibling HCT between 1982 and 2020 using data from the Primary Immune Deficiency Treatment Consortium. Overall survival for Black (aHR 2.47, 95%CI 1.64, 3.71) and Asian/Pacific Islander patients (aHR 1.82, 95%CI 1.00, 3.30) was significantly lower compared with non-Hispanic White patients, while Hispanic patients had lower event-free survival (aHR 1.83, 95%CI 1.27, 2.63) compared with non-Hispanic White patients. Even after adjusting for age and infection, Black patients with SCID had more than twofold hazard of death compared with non-Hispanic White patients. NBS was associated with earlier diagnosis, reduced infection at HCT, and elimination of survival disparities between Black and non-Hispanic White patients. These findings suggest that universal, system-level interventions such as NBS can mitigate disparities in outcomes for children with SCID.