Long-Term Survival and Late Deaths after Hematopoietic Cell Transplantation for Primary Immunodeficiency Diseases and Inborn Errors of Metabolism

Mary Eapen, Kwang Woo Ahn, Paul J. Orchard, Morton J. Cowan, Stella M. Davies, Anders Fasth, Anna Hassebroek, Mouhab Ayas, Carmem Bonfim, Tracey A. O'Brien, Thomas G. Gross, Mitchell Horwitz, Edwin Horwitz, Neena Kapoor, Joanne Kurtzberg, Navneet Majhail, Olle Ringden, Paul Szabolcs, Paul Veys, K. Scott Baker

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38 Scopus citations


It is uncertain whether late mortality rates after hematopoietic cell transplantation for severe combined immunodeficiency (SCID), non-SCID primary immunodeficiency diseases (non-SCID PIDD), and inborn errors of metabolism (IEM) return to rates observed in the general population, matched for age, sex, and nationality. We studied patients with SCID (n = 201), non-SCID PIDD (n = 405), and IEM (n = 348) who survived for at least 2 years after transplantation with normal T cell function (SCID) or >95% donor chimerism (non-SCID PIDD and IEM). Importantly, mortality rate was significantly higher in these patients compared with the general population for several years after transplantation. The rate decreased toward the normal rate in patients with SCID and non-SCID PIDD beyond 6 years after transplantation, but not in patients with IEM. Active chronic graft-versus-host disease at 2 years was associated with increased risk of late mortality for all diseases (hazard ratio [HR], 1.87; P = .05). In addition, late mortality was higher in patients with non-SCID PIDD who received T cell-depleted grafts (HR 4.16; P = .007) and in patients with IEM who received unrelated donor grafts (HR, 2.72; P = .03) or mismatched related donor grafts (HR, 3.76; P = .01). The finding of higher mortality rates in these long-term survivors for many years after transplantation confirms the need for long-term surveillance.

Original languageEnglish (US)
Pages (from-to)1438-1445
Number of pages8
JournalBiology of Blood and Marrow Transplantation
Issue number9
StatePublished - Sep 2012

Bibliographical note

Funding Information:
Financial disclosure: The Center for International Blood and Marrow Transplant Research is supported by Public Health Service Grant/Cooperative Agreement U24-CA76518 from the National Cancer Institute, the National Heart, Lung and Blood Institute, and the National Institute of Allergy and Infectious Diseases ; Grant/Cooperative Agreement 5U01HL069294 from the National Heart, Lung and Blood Institute and National Cancer Institute ; Contract HHSH234200637015C with the Health Resources and Services Administration; Grants N00014-06-1-0704 and N00014-08-1-0058 from the Office of Naval Research ; and grants from Allos, Amgen, Angioblast, anonymous donation to the Medical College of Wisconsin, Ariad, Be the Match Foundation, Blue Cross and Blue Shield Association, Buchanan Family Foundation, CaridianBCT, Celgene, CellGenix, Children’s Leukemia Research Association, Fresenius-Biotech North America, Gamida Cell Teva Joint Venture, Genentech, Genzyme, GlaxoSmithKline, Kiadis Pharma, Leukemia & Lymphoma Society, Medical College of Wisconsin, Millennium Pharmaceuticals, Milliman USA, Miltenyi Biotec, National Marrow Donor Program, Optum Healthcare Solutions, Osiris Therapeutics, Otsuka America Pharmaceutical, RemedyMD, Seattle Genetics, Sigma-Tau Pharmaceuticals, Soligenix, Swedish Orphan Biovitrum, Tarix Pharmaceuticals, Teva Neuroscience, THERAKOS, and Wellpoint . The views expressed in this article do not reflect the official policy or position of the National Institute of Health, Department of the Navy, Department of Defense, or any other agency of the U.S. Government. The authors have no conflicts of interest to disclose.


  • Graft-versus-host disease
  • Mortality
  • Non-malignant hematologic diseases


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