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Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

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Science  24 Jul 2015:
Vol. 349, Issue 6246, pp. 436-440
DOI: 10.1126/science.aaa1663

Article Information

vol. 349 no. 6246 436-440

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History: 
  • Received for publication October 28, 2014
  • Accepted for publication June 8, 2015

Author Information

  1. Bernice Lo1,2,*,
  2. Kejian Zhang3,*,
  3. Wei Lu1,2,
  4. Lixin Zheng1,2,
  5. Qian Zhang2,4,
  6. Chrysi Kanellopoulou1,2,
  7. Yu Zhang2,4,
  8. Zhiduo Liu5,
  9. Jill M. Fritz1,2,
  10. Rebecca Marsh6,
  11. Ammar Husami3,
  12. Diane Kissell3,
  13. Shannon Nortman3,
  14. Vijaya Chaturvedi6,
  15. Hilary Haines7,
  16. Lisa R. Young8,
  17. Jun Mo9,
  18. Alexandra H. Filipovich6,
  19. Jack J. Bleesing6,
  20. Peter Mustillo10,
  21. Michael Stephens11,
  22. Cesar M. Rueda12,
  23. Claire A. Chougnet12,
  24. Kasper Hoebe12,
  25. Joshua McElwee13,
  26. Jason D. Hughes13,
  27. Elif Karakoc-Aydiner14,
  28. Helen F. Matthews1,2,
  29. Susan Price1,2,
  30. Helen C. Su2,4,
  31. V. Koneti Rao1,2,
  32. Michael J. Lenardo1,2,,
  33. Michael B. Jordan6,12,,
  1. 1Molecular Development of the Immune System Section and Clinical and Molecular Genomics Unit, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
  2. 2NIAID Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
  3. 3Division of Human Genetics, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.
  4. 4Human Immunological Diseases Unit, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
  5. 5Lymphocyte Biology Section, Laboratory of Systems Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
  6. 6Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.
  7. 7Division of Pediatric Hematology and Oncology, Department of Pediatrics, University of Alabama at Birmingham, AL, USA.
  8. 8Division of Allergy, Immunology, and Pulmonary Medicine, Department of Pediatrics, and Division of Allergy, Pulmonary, and Critical Care, Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA.
  9. 9Departments of Pathology and Pediatrics, University of California, San Diego and Rady Children's Hospital, San Diego, CA, USA.
  10. 10Section of Allergy and Immunology, Nationwide Children’s Hospital, Columbus, OH, USA.
  11. 11Department of Pediatrics and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA.
  12. 12Division of Immunobiology, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center/ University of Cincinnati, Cincinnati, OH, USA.
  13. 13Merck Research Laboratories, Merck & Co, Boston, MA, USA.
  14. 14Marmara University, Division of Pediatric Allergy and Immunology, Istanbul, Turkey.
  1. Corresponding author. E-mail: michael.jordan{at}cchmc.org
  1. * These authors contributed equally to this work.

  2. These authors contributed equally to this work.

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