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

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• 作者：Christopher C. Dvorak ; Morton J. Cowan ; Brent R. Logan…
• 关键词：Severe combined immunodeficiency ; hematopoietic cell transplantation ; newborn screening
• 刊名：Journal of Clinical Immunology
• 出版年：2013
• 出版时间：October 2013
• 年：2013
• 卷：33
• 期：7
• 页码：1156-1164
• 全文大小：642KB
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• 作者单位：Christopher C. Dvorak (1)
  Morton J. Cowan (1)
  Brent R. Logan (2)
  Luigi D. Notarangelo (3)
  Linda M. Griffith (4)
  Jennifer M. Puck (1)
  Donald B. Kohn (5)
  William T. Shearer (6)
  Richard J. O’Reilly (7)
  Thomas A. Fleisher (8)
  Sung-Yun Pai (9)
  I. Celine Hanson (6)
  Michael A. Pulsipher (10)
  Ramsay Fuleihan (11)
  Alexandra Filipovich (12)
  Frederick Goldman (13)
  Neena Kapoor (14)
  Trudy Small (7)
  Angela Smith (15)
  Ka-Wah Chan (16)
  Geoff Cuvelier (17)
  Jennifer Heimall (18)
  Alan Knutsen (19)
  Brett Loechelt (20)
  Theodore Moore (21)
  Rebecca H. Buckley (22)
  
  1. Division of Pediatric Allergy, Immunology, and Bone Marrow Transplant, Benioff Children’s Hospital, University of California San Francisco, 505 Parnassus Ave., M-659, San Francisco, CA, 94143-1278, USA
  2. Division of Biostatistics, Center for International Blood and Marrow Transplant Research, Medical College of Wisconsin, Milwaukee, WI, USA
  3. Division of Immunology and The Manton Center for Orphan Disease Research, Children’s Hospital Boston, Harvard Medical School, Boston, MA, USA
  4. Division of Allergy, Immunology and Transplantation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MA, USA
  5. Departments of Microbiology, Immunology & Molecular Genetics and Pediatrics, University of California Los Angeles, Los Angeles, CA, USA
  6. Departments of Pediatrics and Pathology & Immunology, Baylor College of Medicine, Houston, TX, USA
  7. Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA
  8. Department of Laboratory Medicine, National Institutes of Health, Bethesda, MA, USA
  9. Division of Hematology and Oncology, Boston Children’s Hospital, and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA
  10. Division of Hematology and Hematologic Malignancies, Primary Children’s Medical Center, University of Utah School of Medicine/Huntsman Cancer Institute, Salt Lake City, UT, USA
  11. Division of Allergy and Immunology, Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
  12. Division of Hematology/Oncolog, Cincinnati Children’s Hospital, Cincinnati, OH, USA
  13. Division of Hematology and Oncology, The Children’s Hospital of Alabama, University of Alabama, Tuscaloosa, AL, USA
  14. Division of Research Immunology and Bone Marrow Transplantation, Children’s Hospital of Los Angeles, Los Angeles, CA, USA
  15. Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA
  16. Pediatric Stem Cell Transplantation Program, Texas Transplant Institute, San Antonio, TX, USA
  17. Manitoba Blood and Marrow Transplant Program, CancerCare Manitoba, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada
  18. Division of Allergy/Immunology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA
  19. Division of Pediatric Allergy & Immunology, St. Louis University, St Louis, MO, USA
  20. Blood and Marrow Transplantation, Allergy and Immunology, Children’s National Medical Center, Washington, DC, USA
  21. Division of Pediatric Hematology/Oncology, University of California Los Angeles, Los Angeles, CA, USA
  22. Departments of Pediatrics & Immunology, Duke University Medical Center, Durham, NC, USA
  
• ISSN：1573-2592

文摘

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--7) and atypical forms (n--3) 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--lt;0.0001), and went to HCT at a median of 67?days vs. 214?days of life (P--lt;0.0001). Most patients (92?%) were treated with HCT within 1-?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.