The Natural History of Children with Severe Combined Immunodeficiency: Baseline Features of the First Fifty Patients of the Primary Immune ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-10

AUTHORS

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 Chan, Geoff Cuvelier, Jennifer Heimall, Alan Knutsen, Brett Loechelt, Theodore Moore, Rebecca H. Buckley

ABSTRACT

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. More... »

PAGES

1156-1164

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10875-013-9917-y

DOI

http://dx.doi.org/10.1007/s10875-013-9917-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1052301778

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23818196


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