Citations 2
Newborn screening reduces survival disparities in SCID after stem cell transplant: A PIDTC report
Winestone, Lena E. , Logan, Brent R. , Liu, Xuerong , Williams, Olatundun , Dunn, Elizabeth A. , Thakar, Monica S. , Kidd, Sharon A. , Dorsey, Morna J. , O'Reilly, R, Kapoor, Neena , Kapadia, Malika , Jyonouchi, Soma , Chandra, Sharat , Chellapandian, Deepak , Chaudhury, Sonali , Chen, Karin , Rayes, Ahmad , Quigg, Troy C. , Teira, Pierre , Gillio, Alfred P. , Eissa, Hesham, Knutsen, Alan P., Aquino, Victor M. , Shereck, Evan , Lugt, Mark T. Vander , Rozmus, Jacob, Yu, Lolie C. , Shah, Ami J. , Joshi, Avni Y. , Buckley, Rebecca H. , Oved, Joseph H. , Azim, Hisham Abdel, Martinez, Caridad , Sullivan, Kathleen E. , Bleesing, Jack J., Madden, Lisa, Shenoy, Shalini , Seroogy, Christine M. , Rubin, Tamar N. , Licata, Jennifer, Andolina, Jeffrey R. , Burroughs, Lauri M. , Leiding, Jennifer W. , Marsh, Rebecca , Pai, Sung‐Yun , Torgerson, Troy R. , Heimall, Jennifer , Griffith, Linda M. , Puck, Jennifer M. , Dvorak, Christopher C. , Cowan, Morton J. , Liu, Xuerong , Mousallem, Talal , Dorsey, Morna J , O'Reilly, Richard J , Kapoor, Neena , Forbes Satter, Lisa R , Kapadia, Malika , Chandra, Sharat , Ebens, Christen L , Chellapandian, Deepakbabu , Chaudhury, Sonali , Chen, Karin , Dávila Saldaña, Blachy J , Rayes, Ahmad , Quigg, Troy C , Chandrakasan, Shanmuganathan , Bednarski, Jeffrey J , DeSantes, Kenneth B , Teira, Pierre , Gillio, Alfred P , Eissa, Hesham , Aquino, Victor M , Shereck, Evan B , Moore, Theodore Bruce , Caywood, Emi H , Vander Lugt, Mark T , Rozmus, Jacob , Broglie, Larisa A , Yu, Lolie C. , Shah, Ami J , Joshi, Avni Y , Buckley, Rebecca H , Dara, Jasmeen , Oved, Joseph H , Abdel Azim, Hisham , Martinez, Caridad , Prockop, Susan E , Sullivan, Kathleen E , Bleesing, Jack J , Keller, Michael D , Madden, Lisa M , Parikh, Suhag , Shenoy, Shalini , Seroogy, Christine M , Rubin, Tamar , Licata, Jennifer , Andolina, Jeffrey R , Kohn, Donald B , Burroughs, Lauri M , Leiding, Jennifer W , Marsh, Rebecca A , Notarangelo, Luigi D , Pai, Sung-Yun , Torgerson, Troy R , Pulsipher, Michael A. , Heimall, Jennifer , Cuvelier, Geoffrey D E , Griffith, Linda M , Puck, Jennifer M , Dvorak, Christopher C , Cowan, Morton J , Haddad, Elie , Winestone, Lena E , Satter, Lisa Forbes , Ebens, Christen L. , Saldaña, Blachy J. Dávila , Chandrakasan, Shanmuganathan , Knutsen, Alan P. , Broglie, Larisa , Dara, Jasmeen , Abdel‐Azim, Hisham , Prockop, Susan E. , Bleesing, Jack , Keller, Michael D. , Parikh, Suhag , Kohn, Donald B. , Cuvelier, Geoff D.E. , Haddad, Élie
Journal of Human Immunity | July 7, 2026 | Volume: 2 | Issue: 5 | Pages: No page available
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.
Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report
Burroughs, Lauri M. , Petrović, Aleksandra , Brazauskas, Ruta , Liu, Xuerong , Griffith, Linda M. , Ochs, Hans D. , Bleesing, Jack , Edwards, Stephanie , Dvorak, Christopher C. , Chaudhury, Sonali , Prockop, Susan E. , Quinones, Ralph, Goldman, Frederick D. , Quigg, Troy C. , Chandrakasan, Shanmuganathan , Smith, Angela R. , Saldaña, Blachy J. Dávila , Thakar, Monica S. , Shenoy, Shalini , Forbes, Lisa R., Martinez, Caridad , Chellapandian, Deepak , Shereck, Evan , Miller, Holly, Kapoor, Neena , Barnum, Jessie L., Chong, Hey , Shyr, David C. , Chen, Karin , Shah, Ami J. , Weinacht, Katja G. , Joshi, Avni Y. , Gillio, Alfred P. , Cuvelier, Geoff D.E. , Keller, Michael D. , Rozmus, Jacob, Torgerson, Troy R. , Haddad, Élie , Sullivan, Kathleen E. , Logan, Brent R. , Puck, Jennifer M. , Pai, Sung‐Yun , Rawlings, David J. , Cowan, Morton J. , Satter, Lisa Forbes , Joshi, Avni, Cuvelier, Geoffrey D E , Forbes Satter, Lisa R , Prockop, Susan E , Dávila Saldaña, Blachy J , Dvorak, Christopher C , Haddad, Elie , Parikh, Suhag , Phelan, Rachel , Abu‐Arja, Rolla , Moore, Theodore Bruce , DeSantes, Kenneth B , Pulsipher, Michael A. , Kohn, Donald B. , Notarangelo, Luigi D , Chandrakasan, Shanmuganathan , Rozmus, Jacob , Shah, Ami J , Keller, Michael D
Blood | April 8, 2020 | Volume: 135 | Issue: 23 | Pages: 2094-2105
Abstract Wiskott-Aldrich syndrome (WAS) is an X-linked disease caused by mutations in the WAS gene, leading to thrombocytopenia, eczema, recurrent infections, autoimmune disease, and malignancy. Hematopoietic cell transplantation (HCT) is the primary curative approach, with the goal of correcting the underlying immunodeficiency and thrombocytopenia. HCT outcomes have improved over time, particularly for patients with HLA-matched sibling and unrelated donors. We report the outcomes of 129 patients with WAS who underwent HCT at 29 Primary Immune Deficiency Treatment Consortium centers from 2005 through 2015. Median age at HCT was 1.2 years. Most patients (65%) received myeloablative busulfan-based conditioning. With a median follow-up of 4.5 years, the 5-year overall survival (OS) was 91%. Superior 5-year OS was observed in patients <5 vs ≥5 years of age at the time of HCT (94% vs 66%; overall P = .0008). OS was excellent regardless of donor type, even in cord blood recipients (90%). Conditioning intensity did not affect OS, but was associated with donor T-cell and myeloid engraftment after HCT. Specifically, patients who received fludarabine/melphalan-based reduced-intensity regimens were more likely to have donor myeloid chimerism <50% early after HCT. In addition, higher platelet counts were observed among recipients who achieved full (>95%) vs low-level (5%-49%) donor myeloid engraftment. In summary, HCT outcomes for WAS have improved since 2005, compared with prior reports. HCT at a younger age continues to be associated with superior outcomes supporting the recommendation for early HCT. High-level donor myeloid engraftment is important for platelet reconstitution after either myeloablative or busulfan-containing reduced intensity conditioning. (This trial was registered at www.clinicaltrials.gov as #NCT02064933.)