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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC
Blood, Volume 140, No. 7, Year 2022
Notification
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Description
Adenosine deaminase (ADA) deficiency causes ∼13% of cases of severe combined immune deficiency (SCID). Treatments include enzyme replacement therapy (ERT), hematopoietic cell transplant (HCT), and gene therapy (GT). We evaluated 131 patients with ADA-SCID diagnosed between 1982 and 2017 who were enrolled in the Primary Immune Deficiency Treatment Consortium SCID studies. Baseline clinical, immunologic, genetic characteristics, and treatment outcomes were analyzed. First definitive cellular therapy (FDCT) included 56 receiving HCT without preceding ERT (HCT); 31 HCT preceded by ERT (ERT-HCT); and 33 GT preceded by ERT (ERT-GT). Five-year event-free survival (EFS, alive, no need for further ERT or cellular therapy) was 49.5% (HCT), 73% (ERT-HCT), and 75.3% (ERT-GT; P < .01). Overall survival (OS) at 5 years after FDCT was 72.5% (HCT), 79.6% (ERT-HCT), and 100% (ERT-GT; P = .01). Five-year OS was superior for patients undergoing HCT at <3.5 months of age (91.6% vs 68% if ≥3.5 months, P = .02). Active infection at the time of HCT (regardless of ERT) decreased 5-year EFS (33.1% vs 68.2%, P < .01) and OS (64.7% vs 82.3%, P = .02). Five-year EFS (90.5%) and OS (100%) were best for matched sibling and matched family donors (MSD/MFD). For patients treated after the year 2000 and without active infection at the time of FDCT, no difference in 5-year EFS or OS was found between HCT using a variety of transplant approaches and ERT-GT. This suggests alternative donor HCT may be considered when MSD/MFD HCT and GT are not available, particularly when newborn screening identifies patients with ADA-SCID soon after birth and before the onset of infections. This trial was registered at www.clinicaltrials.gov as #NCT01186913 and #NCT01346150. © 2022 American Society of Hematology
Authors & Co-Authors
Cuvelier, Geoffrey D.E.
Canada, Winnipeg
Cancercare Manitoba
Logan, Brent R.
United States, Milwaukee
Medical College of Wisconsin
Prockop, Susan E.
United States, Boston
Boston Children's Hospital
Buckley, Rebecca Hatcher
United States, Durham
Duke University Medical Center
Kuo, Caroline Y.
United States, Los Angeles
University of California, Los Angeles
Hershfield, Michael Steven J.E.
United States, Durham
Duke University Medical Center
Dorsey, Morna J.
United States, San Francisco
Ucsf Benioff Children‘s Hospital
Kapoor, Neena
United States, Los Angeles
Children's Hospital Los Angeles
Pai, Sung-yun
United States, Rockville
National Cancer Institute Nci
Ebens, Christen L.
United States, Minneapolis
Children's Hospitals and Clinics of Minnesota
Forbes-Satter, Lisa R.
United States, Houston
Baylor College of Medicine
Heimall, Jennifer R.
United States, Philadelphia
University of Pennsylvania
Bednarski, Jeffrey J.
United States, St. Louis
Washington University in St. Louis
Chandra, Sharat
United States, Cincinnati
Cincinnati Children's Hospital Medical Center
Chandrakasan, Shanmuganathan
Unknown Affiliation
Eissa, Hesham M.
Unknown Affiliation
Goldman, Frederick D.
United States, Birmingham
The University of Alabama at Birmingham
Rozmus, Jacob
Canada, Vancouver
Bc Children's Hospital
Shah, Ami J.
United States, Stanford
Stanford University School of Medicine
Thakar, Monica S.
United States, Seattle
Fred Hutchinson Cancer Center
Parrott, Roberta E.
United States, Durham
Duke University Medical Center
Leiding, Jennifer W.
United States, Baltimore
Johns Hopkins University
Torgerson, Troy Robert
United States, Seattle
Allen Institute for Immunology
Pulsipher, Michael A.
United States, Salt Lake City
Primary Children's Medical Center
Notarangelo, Luigi Daniele
United States, Bethesda
National Institutes of Health Nih
Cowan, Morton J.
United States, San Francisco
Ucsf Benioff Children‘s Hospital
Dvorak, Christopher C.
United States, San Francisco
Ucsf Benioff Children‘s Hospital
Haddad, Elie
Canada, Montreal
University of Montreal
Puck, Jennifer M.
United States, San Francisco
Ucsf Benioff Children‘s Hospital
Statistics
Citations: 22
Authors: 29
Affiliations: 32
Identifiers
Doi:
10.1182/blood.2022016196
ISSN:
00064971
Research Areas
Genetics And Genomics