PAX1 is essential for development and function of the human thymus

Author:

Yamazaki Yasuhiro1ORCID,Urrutia Raul2ORCID,Franco Luis M.3ORCID,Giliani Silvia45ORCID,Zhang Kejian67ORCID,Alazami Anas M.89ORCID,Dobbs A. Kerry1ORCID,Masneri Stefania45,Joshi Avni10,Otaizo-Carrasquero Francisco11ORCID,Myers Timothy G.11ORCID,Ganesan Sundar12,Bondioni Maria Pia13,Ho Mai Lan14ORCID,Marks Catherine14,Alajlan Huda8,Mohammed Reem W.15ORCID,Zou Fanggeng716,Valencia C. Alexander7171819,Filipovich Alexandra H.20,Facchetti Fabio4,Boisson Bertrand212223ORCID,Azzari Chiara2425ORCID,Al-Saud Bander K.1526ORCID,Al-Mousa Hamoud1526,Casanova Jean Laurent2122232728ORCID,Abraham Roshini S.2930ORCID,Notarangelo Luigi D.1ORCID

Affiliation:

1. Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD 20892, USA.

2. Human and Molecular Genetics Center, Medical College Wisconsin, Milwaukee, MI, USA.

3. Systemic Autoimmunity Branch, NIAMS, NIH, Bethesda, MD 20892, USA.

4. Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.

5. Cytogenetic and Medical Genetics Unit, “A. Nocivelli” Institute for Molecular Medicine, Spedali Civili Hospital, Brescia, Italy.

6. Coyote Bioscience USA Inc., San Jose, CA 95138, USA.

7. Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.

8. Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.

9. Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.

10. Division of Pediatric Allergy and Immunology, Mayo Clinic Children’s Center, Rochester, MN, USA.

11. Genomic Technologies Section, NIAID, NIH, Bethesda, MD 20892, USA.

12. Research Technologies Branch, DIR, NIAID, NIH, Bethesda, MD 20892, USA.

13. Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Brescia, Italy.

14. Department of Radiology, Mayo Clinic, Rochester, MN, USA.

15. Alfaisal University, Riyadh, Saudi Arabia.

16. GeneDx Inc., Gaithersburg, MD 20877, USA.

17. PerkinElmer Genomics, Pittsburgh, PA 15275, USA.

18. Department of Geriatrics, West China Hospital, Sichuan University, Chengdu, China.

19. Aperiomics Inc., Sterling, VA 20166, USA.

20. Cancer and Blood Institute, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.

21. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.

22. Laboratory of Human Genetics of Infectious Diseases, Necker Branch INSERM, Necker Hospital for Sick Children, Paris, France.

23. Paris Descartes University, Imagine Institute, Paris, France.

24. Pediatric Immunology, Department of Health Sciences, University of Florence, Florence, Italy.

25. Meyer Children’s Hospital, Florence, Italy.

26. Department of Pediatrics, Allergy and Immunology Section, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.

27. Pediatrics Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France.

28. Howard Hughes Medical Institute, New York, NY 10065, USA.

29. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.

30. Department of Pathology and Laboratory Medicine, Nationwide Children’s Hospital, Columbus, OH 43205, USA.

Abstract

PAX1 deficiency causes a syndromic form of SCID by altering differentiation of thymic epithelial cells and other pharyngeal pouch tissues.

Funder

Division of Intramural Research, National Institute of Allergy and Infectious Diseases

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine,Immunology

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