Journal of Clinical Immunology

, Volume 33, Issue 7, pp 1156–1164

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

Authors

    • Division of Pediatric Allergy, Immunology, and Bone Marrow Transplant, Benioff Children’s HospitalUniversity of California San Francisco
  • Morton J. Cowan
    • Division of Pediatric Allergy, Immunology, and Bone Marrow Transplant, Benioff Children’s HospitalUniversity of California San Francisco
  • Brent R. Logan
    • Division of Biostatistics, Center for International Blood and Marrow Transplant ResearchMedical College of Wisconsin
  • Luigi D. Notarangelo
    • Division of Immunology and The Manton Center for Orphan Disease Research, Children’s Hospital BostonHarvard Medical School
  • Linda M. Griffith
    • Division of Allergy, Immunology and Transplantation, National Institute of Allergy and Infectious DiseasesNational Institutes of Health
  • Jennifer M. Puck
    • Division of Pediatric Allergy, Immunology, and Bone Marrow Transplant, Benioff Children’s HospitalUniversity of California San Francisco
  • Donald B. Kohn
    • Departments of Microbiology, Immunology & Molecular Genetics and Pediatrics, University of California Los Angeles
  • William T. Shearer
    • Departments of Pediatrics and Pathology & ImmunologyBaylor College of Medicine
  • Richard J. O’Reilly
    • Department of PediatricsMemorial Sloan Kettering Cancer Center
  • Thomas A. Fleisher
    • Department of Laboratory MedicineNational Institutes of Health
  • Sung-Yun Pai
    • Division of Hematology and Oncology, Boston Children’s Hospital, and Department of Pediatric Oncology, Dana-Farber Cancer Institute
  • I. Celine Hanson
    • Departments of Pediatrics and Pathology & ImmunologyBaylor College of Medicine
  • Michael A. Pulsipher
    • Division of Hematology and Hematologic Malignancies, Primary Children’s Medical CenterUniversity of Utah School of Medicine/Huntsman Cancer Institute
  • Ramsay Fuleihan
    • Division of Allergy and Immunology, Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University Feinberg School of Medicine
  • Alexandra Filipovich
    • Division of Hematology/OncologCincinnati Children’s Hospital
  • Frederick Goldman
    • Division of Hematology and Oncology, The Children’s Hospital of AlabamaUniversity of Alabama
  • Neena Kapoor
    • Division of Research Immunology and Bone Marrow TransplantationChildren’s Hospital of Los Angeles
  • Trudy Small
    • Department of PediatricsMemorial Sloan Kettering Cancer Center
  • Angela Smith
    • Division of Pediatric Blood and Marrow TransplantationUniversity of Minnesota
  • Ka-Wah Chan
    • Pediatric Stem Cell Transplantation ProgramTexas Transplant Institute
  • Geoff Cuvelier
    • Manitoba Blood and Marrow Transplant Program, CancerCare Manitoba, Department of Pediatrics and Child HealthUniversity of Manitoba
  • Jennifer Heimall
    • Division of Allergy/ImmunologyThe Children’s Hospital of Philadelphia
  • Alan Knutsen
    • Division of Pediatric Allergy & ImmunologySt. Louis University
  • Brett Loechelt
    • Blood and Marrow Transplantation, Allergy and ImmunologyChildren’s National Medical Center
  • Theodore Moore
    • Division of Pediatric Hematology/OncologyUniversity of California Los Angeles
  • Rebecca H. Buckley
    • Departments of Pediatrics & ImmunologyDuke University Medical Center
Original Research

DOI: 10.1007/s10875-013-9917-y

Cite this article as:
Dvorak, C.C., Cowan, M.J., Logan, B.R. et al. J Clin Immunol (2013) 33: 1156. doi:10.1007/s10875-013-9917-y

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.

Keywords

Severe combined immunodeficiencyhematopoietic cell transplantationnewborn screening

Copyright information

© Springer Science+Business Media New York 2013