The natural history of children with severe combined immunodeficiency: Baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901

Christopher C. Dvorak, Morton J. Cowan, Brent R. Logan, Luigi D. Notarangelo, Linda M. Griffith, Jennifer M. Puck, Donald B. Kohn, William T. Shearer, Richard J. O'Reilly, Thomas A. Fleisher, Sung Yun Pai, I. Celine Hanson, Michael A. Pulsipher, Ramsay Fuleihan, Alexandra Filipovich, Frederick Goldman, Neena Kapoor, Trudy Small, Angela Smith, Ka Wah ChanGeoff Cuvelier, Jennifer Heimall, Alan Knutsen, Brett Loechelt, Theodore Moore, Rebecca H. Buckley

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75 Scopus citations


The Primary Immune Deficiency Treatment Consortium (PIDTC) consists of 33 centers in North America. We hypothesized that the analysis of uniform data on patients with severe combined immunodeficiency (SCID) enrolled in a prospective protocol will identify variables that contribute to optimal outcomes following treatment. We report baseline clinical, immunologic, and genetic features of the first 50 patients enrolled, and the initial therapies administered, reflecting current practice in the diagnosis and treatment of both typical (n = 37) and atypical forms (n = 13) of SCID. From August 2010 to May 2012, patients with suspected SCID underwent evaluation and therapy per local center practices. Diagnostic information was reviewed by the PIDTC eligibility review panel, and hematopoietic cell transplantation (HCT) details were obtained from the Center for International Blood and Marrow Transplant Research. Most patients (92 %) had mutations in a known SCID gene. Half of the patients were diagnosed by newborn screening or family history, were younger than those diagnosed by clinical signs (median 15 vs. 181 days; P = <0.0001), and went to HCT at a median of 67 days vs. 214 days of life (P = <0.0001). Most patients (92 %) were treated with HCT within 1-2 months of diagnosis. Three patients were treated with gene therapy and 1 with enzyme replacement. The PIDTC plans to enroll over 250 such patients and analyze short and long-term outcomes for factors beneficial or deleterious to survival, clinical outcome, and T- and B-cell reconstitution, and which biomarkers are predictive of these outcomes.

Original languageEnglish (US)
Pages (from-to)1156-1164
Number of pages9
JournalJournal of Clinical Immunology
Issue number7
StatePublished - Oct 2013

Bibliographical note

Funding Information:
Acknowledgements This paper is dedicated to the memory of Dr. Trudy Small, a gifted physician who dedicated her life to improving transplant outcomes for children with immunodeficiencies. The authors thank Elizabeth Dunn and Jessica Carlson for their tireless efforts organizing the PIDTC, Yanning Wang for expert technical assistance from the UCSF core lab, and Mary Eapen, MD and Qun Xiang from the CIBMTR for assistance with data analysis. Data collection for this study were in-part facilitated through the CIBMTR (U24-CA76518; PI Horowitz MM). The PIDTC is a part of NIH Rare Diseases Clinical Research Network, with the DMCC at the University of South Florida. Portions of this data were presented as an oral abstract at the annual meeting of the American Society for Blood and Marrow Transplant, Salt Lake City, UT, 14 February 2013 (abstract no. 93). Funding and/or programmatic support for this project has been provided by Grant #1U54AI082973 from National Institute of Allergy and Infectious Diseases and the NIH Office of Rare Diseases Research, National Center for Advancing Translational Science. The views expressed are those of the authors and do not represent the position of the NIAID, ORDR/NCATS, NIH, or the US Government.


  • Severe combined immunodeficiency
  • hematopoietic cell transplantation
  • newborn screening


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