1. 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.
- Author
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Thakar, Monica, Logan, Brent, Puck, Jennifer, Dunn, Elizabeth, Buckley, Rebecca, Cowan, Morton, OReilly, Richard, Kapoor, Neena, Satter, Lisa, Pai, Sung-Yun, Heimall, Jennifer, Chandra, Sharat, Ebens, Christen, Chellapandian, Deepak, Williams, Olatundun, Burroughs, Lauri, Saldana, Blachy, Rayes, Ahmad, Madden, Lisa, Chandrakasan, Shanmuganathan, Bednarski, Jeffrey, DeSantes, Kenneth, Cuvelier, Geoffrey, Teira, Pierre, Gillio, Alfred, Eissa, Hesham, Knutsen, Alan, Goldman, Frederick, Aquino, Victor, Shereck, Evan, Moore, Theodore, Caywood, Emi, Lugt, Mark, Rozmus, Jacob, Broglie, Larisa, Yu, Lolie, Shah, Ami, Andolina, Jeffrey, Liu, Xuerong, Parrott, Roberta, Dara, Jasmeen, Prockop, Susan, Martinez, Caridad, Kapadia, Malika, Jyonouchi, Soma, Sullivan, Kathleen, Bleesing, Jack, Chaudhury, Sonali, Petrovic, Aleksandra, Keller, Michael, Quigg, Troy, Parikh, Suhag, Shenoy, Shalini, Seroogy, Christine, Rubin, Tamar, Decaluwe, Hélène, Routes, John, Torgerson, Troy, Leiding, Jennifer, Pulsipher, Michael, Kohn, Donald, Griffith, Linda, Haddad, Elie, Dvorak, Christopher, and Notarangelo, Luigi
- Subjects
Humans ,Infant ,Newborn ,Graft vs Host Disease ,Hematopoietic Stem Cell Transplantation ,Longitudinal Studies ,Neonatal Screening ,Proportional Hazards Models ,Severe Combined Immunodeficiency - Abstract
BACKGROUND: Severe combined immunodeficiency (SCID) is fatal unless durable adaptive immunity is established, most commonly through allogeneic haematopoietic cell transplantation (HCT). The Primary Immune Deficiency Treatment Consortium (PIDTC) explored factors affecting the survival of individuals with SCID over almost four decades, focusing on the effects of population-based newborn screening for SCID that was initiated in 2008 and expanded during 2010-18. METHODS: We analysed transplantation-related data from children with SCID treated at 34 PIDTC sites in the USA and Canada, using the calendar time intervals 1982-89, 1990-99, 2000-09, and 2010-18. Categorical variables were compared by χ2 test and continuous outcomes by the Kruskal-Wallis test. Overall survival was estimated by the Kaplan-Meier method. A multivariable analysis using Cox proportional hazards regression models examined risk factors for HCT outcomes, including the variables of time interval of HCT, infection status and age at HCT, trigger for diagnosis, SCID type and genotype, race and ethnicity of the patient, non-HLA-matched sibling donor type, graft type, GVHD prophylaxis, and conditioning intensity. FINDINGS: For 902 children with confirmed SCID, 5-year overall survival remained unchanged at 72%-73% for 28 years until 2010-18, when it increased to 87% (95% CI 82·1-90·6; n=268; p=0·0005). For children identified as having SCID by newborn screening since 2010, 5-year overall survival was 92·5% (95% CI 85·8-96·1), better than that of children identified by clinical illness or family history in the same interval (79·9% [69·5-87·0] and 85·4% [71·8-92·8], respectively [p=0·043]). Multivariable analysis demonstrated that the factors of active infection (hazard ratio [HR] 2·41, 95% CI 1·56-3·72; p
- Published
- 2023