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PAX1 is essential for development and function of the human thymus

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Science Immunology  28 Feb 2020:
Vol. 5, Issue 44, eaax1036
DOI: 10.1126/sciimmunol.aax1036

Article Information

vol. 5 no. 44

PubMed: 
Published By: 
History: 
  • Received February 21, 2019
  • Accepted January 28, 2020
  • .

Author Information

  1. Yasuhiro Yamazaki1,
  2. Raul Urrutia2,
  3. Luis M. Franco3,
  4. Silvia Giliani4,5,
  5. Kejian Zhang6,7,
  6. Anas M. Alazami8,9,
  7. A. Kerry Dobbs1,
  8. Stefania Masneri4,5,
  9. Avni Joshi10,
  10. Francisco Otaizo-Carrasquero11,
  11. Timothy G. Myers11,
  12. Sundar Ganesan12,
  13. Maria Pia Bondioni13,
  14. Mai Lan Ho14,
  15. Catherine Marks14,
  16. Huda Alajlan8,
  17. Reem W. Mohammed15,
  18. Fanggeng Zou7,16,
  19. C. Alexander Valencia7,17,18,19,
  20. Alexandra H. Filipovich20,
  21. Fabio Facchetti4,
  22. Bertrand Boisson21,22,23,
  23. Chiara Azzari24,25,
  24. Bander K. Al-Saud15,26,
  25. Hamoud Al-Mousa15,26,
  26. Jean Laurent Casanova21,22,23,27,28,
  27. Roshini S. Abraham29,30 and
  28. Luigi D. Notarangelo1,*
  1. 1Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD 20892, USA.
  2. 2Human and Molecular Genetics Center, Medical College Wisconsin, Milwaukee, MI, USA.
  3. 3Systemic Autoimmunity Branch, NIAMS, NIH, Bethesda, MD 20892, USA.
  4. 4Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  5. 5Cytogenetic and Medical Genetics Unit, “A. Nocivelli” Institute for Molecular Medicine, Spedali Civili Hospital, Brescia, Italy.
  6. 6Coyote Bioscience USA Inc., San Jose, CA 95138, USA.
  7. 7Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
  8. 8Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
  9. 9Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
  10. 10Division of Pediatric Allergy and Immunology, Mayo Clinic Children’s Center, Rochester, MN, USA.
  11. 11Genomic Technologies Section, NIAID, NIH, Bethesda, MD 20892, USA.
  12. 12Research Technologies Branch, DIR, NIAID, NIH, Bethesda, MD 20892, USA.
  13. 13Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Brescia, Italy.
  14. 14Department of Radiology, Mayo Clinic, Rochester, MN, USA.
  15. 15Alfaisal University, Riyadh, Saudi Arabia.
  16. 16GeneDx Inc., Gaithersburg, MD 20877, USA.
  17. 17PerkinElmer Genomics, Pittsburgh, PA 15275, USA.
  18. 18Department of Geriatrics, West China Hospital, Sichuan University, Chengdu, China.
  19. 19Aperiomics Inc., Sterling, VA 20166, USA.
  20. 20Cancer and Blood Institute, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
  21. 21St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
  22. 22Laboratory of Human Genetics of Infectious Diseases, Necker Branch INSERM, Necker Hospital for Sick Children, Paris, France.
  23. 23Paris Descartes University, Imagine Institute, Paris, France.
  24. 24Pediatric Immunology, Department of Health Sciences, University of Florence, Florence, Italy.
  25. 25Meyer Children’s Hospital, Florence, Italy.
  26. 26Department of Pediatrics, Allergy and Immunology Section, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
  27. 27Pediatrics Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France.
  28. 28Howard Hughes Medical Institute, New York, NY 10065, USA.
  29. 29Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
  30. 30Department of Pathology and Laboratory Medicine, Nationwide Children’s Hospital, Columbus, OH 43205, USA.
  1. *Corresponding author. Email: luigi.notarangelo2{at}nih.gov

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