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Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

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Science  24 May 2013:
Vol. 340, Issue 6135, pp. 976-978
DOI: 10.1126/science.1234864

Article Information

vol. 340 no. 6135 976-978

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History: 
  • Received for publication January 7, 2013
  • Accepted for publication March 20, 2013
  • .

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Author Information

  1. Alexandre Bolze1,2,,
  2. Nizar Mahlaoui3,
  3. Minji Byun1,
  4. Bridget Turner4,
  5. Nikolaus Trede4,
  6. Steven R. Ellis5,
  7. Avinash Abhyankar1,
  8. Yuval Itan1,
  9. Etienne Patin6,
  10. Samuel Brebner1,
  11. Paul Sackstein1,
  12. Anne Puel2,7,
  13. Capucine Picard2,7,8,
  14. Laurent Abel1,2,7,
  15. Lluis Quintana-Murci6,
  16. Saul N. Faust9,10,*,
  17. Anthony P. Williams10,11,*,
  18. Richard Baretto12,*,
  19. Michael Duddridge12,*,
  20. Usha Kini13,*,
  21. Andrew J. Pollard14,*,
  22. Catherine Gaud15,*,
  23. Pierre Frange16,17,*,
  24. Daniel Orbach18,*,
  25. Jean-Francois Emile19,*,
  26. Jean-Louis Stephan20,*,
  27. Ricardo Sorensen21,*,
  28. Alessandro Plebani22,*,
  29. Lennart Hammarstrom23,*,
  30. Mary Ellen Conley24,
  31. Licia Selleri25,
  32. Jean-Laurent Casanova1,2,7,16
  1. 1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY 10065, USA.
  2. 2University Paris Descartes, Sorbonne Paris Cité, Imagine Institute, 75006 Paris, France.
  3. 3Pediatric Hematology-Immunology and Rheumatology Unit, French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker-Enfants Malades Hospital, 75015 Paris, France.
  4. 4The Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.
  5. 5Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, KY 40202, USA.
  6. 6Unit of Human Evolutionary Genetics, CNRS URA3012, Department of Genomes and Genetics, Pasteur Institute, 75015 Paris, France.
  7. 7Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U980, 75015 Paris, France.
  8. 8Study Center of Primary Immunodeficiency, Necker-Enfants Malades Hospital, Assistance-Publique Hopitaux de Paris, 75015 Paris, France.
  9. 9NIHR Wellcome Trust Clinical Research Facility, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK.
  10. 10Faculty of Medicine and Institute for Life Sciences, University of Southampton, Southampton SO16 6YD, UK.
  11. 11University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK.
  12. 12Department of Immunology, University Hospitals Leicester NHS Trust, Leicester LE1 5WW, UK.
  13. 13Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford OX3 7LE, UK.
  14. 14Department of Pediatrics, University of Oxford, and the NIHR Oxford Biomedical Research Centre, Oxford OX3 9DU, UK.
  15. 15Department of Clinical Immunology, CHU Reunion Site Nord, 97405 Saint-Denis, Reunion Island, France.
  16. 16Pediatric Immunology-Hematology Unit, Necker-Enfants Malades Hospital, Assistance-Publique Hopitaux de Paris, 75015 Paris, France.
  17. 17EA 3620, University Paris Descartes, Sorbonne Paris Cité, 75015 Paris, France.
  18. 18Pediatric Department, Curie Institute, 75005 Paris, France.
  19. 19EA 4340, University Versailles SQY and Ambroise Pare Hospital, Assistance-Publique Hopitaux de Paris, 92104 Boulogne, France.
  20. 20Department of Pediatrics, CHU Nord, 42055 Saint-Etienne, France.
  21. 21Department of Pediatrics, Louisiana State University Health Sciences Center, Jeffrey Modell Diagnostic Center for Primary Immunodeficiencies and Children’s Hospital, New Orleans, LA 70118, USA.
  22. 22Department of Pediatrics and Institute for Molecular Medicine “A. Nocivelli,” University of Brescia, Spedali Civili of Brescia, 25123 Brescia, Italy.
  23. 23Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE-14186 Stockholm, Sweden.
  24. 24Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN 38101, USA.
  25. 25Department of Cell and Developmental Biology, Weill Medical College of Cornell University, New York, NY 10065, USA.
  1. Corresponding author. E-mail: albo719{at}rockefeller.edu; alexandre.bolze{at}gmail.com
  1. * These authors contributed equally to this work.

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