Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations-Reference-Cited by-同舟云学术

Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

Published:2015-08-07 Issue:6248 Volume:349 Page:606-613
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Okada Satoshi¹²,Markle Janet G.¹,Deenick Elissa K.³⁴,Mele Federico⁵,Averbuch Dina⁶,Lagos Macarena⁷⁸,Alzahrani Mohammed⁹,Al-Muhsen Saleh⁹¹⁰,Halwani Rabih¹⁰,Ma Cindy S.³⁴,Wong Natalie³,Soudais Claire¹¹,Henderson Lauren A.¹²,Marzouqa Hiyam¹³,Shamma Jamal¹³,Gonzalez Marcela⁷,Martinez-Barricarte Rubén¹,Okada Chizuru¹,Avery Danielle T.³,Latorre Daniela⁵,Deswarte Caroline¹⁴¹⁵,Jabot-Hanin Fabienne¹⁴¹⁵,Torrado Egidio¹⁶,Fountain Jeffrey¹⁶,Belkadi Aziz¹⁴¹⁵,Itan Yuval¹,Boisson Bertrand¹,Migaud Mélanie¹⁴¹⁵,Arlehamn Cecilia S. Lindestam¹⁷,Sette Alessandro¹⁷,Breton Sylvain¹⁸,McCluskey James¹⁹,Rossjohn Jamie²⁰²¹²²,de Villartay Jean-Pierre²³,Moshous Despina²³²⁴,Hambleton Sophie²⁵,Latour Sylvain²⁶,Arkwright Peter D.²⁷,Picard Capucine¹¹⁴¹⁵²⁴²⁸,Lantz Olivier¹¹,Engelhard Dan⁶,Kobayashi Masao²,Abel Laurent¹¹⁴¹⁵,Cooper Andrea M.¹⁶,Notarangelo Luigi D.¹²²⁹,Boisson-Dupuis Stéphanie¹¹⁴¹⁵,Puel Anne¹¹⁴¹⁵,Sallusto Federica⁵³⁰,Bustamante Jacinta¹¹⁴¹⁵²⁸,Tangye Stuart G.³⁴,Casanova Jean-Laurent¹¹⁴¹⁵²⁴³¹

Affiliation:

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

2. Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.

3. Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.

4. St Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales, Australia.

5. Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland.

6. Department of Pediatrics, Hadassah University Hospital, Jerusalem, Israel.

7. Department of Immunology, School of Medicine, Universidad de Valparaíso, Santiago, Chile.

8. Department of Pediatrics, Padre Hurtado Hospital and Clinica Alemana, Santiago, Chile.

9. Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

10. Department of Pediatrics, Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

11. Institut Curie, INSERM U932, Paris, France.

12. Division of Immunology, Boston Children’s Hospital, Boston, MA 02115, USA.

13. Caritas Baby Hospital, Post Office Box 11535, Jerusalem, Israel.

14. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.

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

16. Trudeau Institute, Saranac Lake, NY 12983, USA.

17. La Jolla Institute for Allergy and Immunology, La Jolla, CA 92037, USA.

18. Department of Radiology, Assistance Publique–Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France.

19. Department of Microbiology and Immunology, Peter Doherty Institute for Infection and Immunity, University of Melbourne, Parkville, Victoria, Australia.

20. Department of Biochemistry and Molecular Biology, School of Biomedical Sciences, Monash University, Clayton, Victoria, Australia.

21. Australian Research Council Centre of Excellence for Advanced Molecular Imaging, Monash University, Clayton, Victoria, Australia.

22. Institute of Infection and Immunity, Cardiff University, School of Medicine, Heath Park, Cardiff CF14 4XN, UK.

23. Laboratoire Dynamique du Génome et Système Immunitaire, INSERM UMR 1163, Université Paris Descartes–Sorbonne Paris Cité, Imagine Institute, Paris, France.

24. Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.

25. Institute of Cellular Medicine, Newcastle University and Great North Children’s Hospital, Newcastle upon Tyne NE4 6BE, UK.

26. Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Université Paris Descartes–Sorbonne Paris Cité, Imagine Institute, Paris, France.

27. Department of Paediatric Allergy Immunology, University of Manchester, Royal Manchester Children’s Hospital, Manchester, UK.

28. Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.

29. Manton Center for Orphan Disease Research, Children’s Hospital, Boston, MA 02115, USA.

30. Center of Medical Immunology, Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland.

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

Abstract

A surprising immune twist for RORC The immune system needs its full array of soldiers—including cells and the molecules they secrete—to optimally protect the host. When this isn't the case, minor infections can become chronic or even deadly. Markle et al. report the discovery of seven individuals carrying loss-of-function mutations in RORC, which encodes the transcription factors RORγ and RORγT. These individuals lacked immune cells that produce the cytokine interleukin-17, causing them to suffer from chronic candidiasis. RORC-deficient individuals also exhibited impaired immunity to mycobacterium, probably due to reduced production of the cytokine interferon-γ, a molecule not known to require RORC for its induction. Science , this issue p. 606

Funder

NIH

National Institute of Allergy and Infectious Diseases

National Center for Research Resources

St. Giles Foundation

European Molecular Biology Organization

European Research Council

Canadian Institutes of Health Research

National Health and Medical Research Council (NHMRC)

French National Research Agency (ANR)

INSERM

Japan Society for the Promotion of Science