Research ArticleIMMUNODEFICIENCIES

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

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Science Immunology  29 Nov 2019:
Vol. 4, Issue 41, eaax7965
DOI: 10.1126/sciimmunol.aax7965

Article Information

vol. 4 no. 41

PubMed: 
Published By: 
History: 
  • Received April 23, 2019
  • Accepted November 1, 2019
  • .

Author Information

  1. Juan Li1,
  2. Marco Ritelli2,
  3. Cindy S. Ma3,4,
  4. Geetha Rao3,*,
  5. Tanwir Habib5,*,
  6. Emilie Corvilain6,7,*,
  7. Salim Bougarn5,*,
  8. Sophie Cypowyj1,*,
  9. Lucie Grodecká8,*,
  10. Romain Lévy6,7,
  11. Vivien Béziat6,7,
  12. Lei Shang1,,
  13. Kathryn Payne3,
  14. Danielle T. Avery3,
  15. Mélanie Migaud6,7,
  16. Soraya Boucherit6,7,
  17. Sabri Boughorbel5,
  18. Andrea Guennoun5,
  19. Maya Chrabieh6,7,
  20. Franck Rapaport1,
  21. Benedetta Bigio1,
  22. Yuval Itan1,9,10,
  23. Bertrand Boisson1,6,7,
  24. Claire Fieschi11,
  25. Valérie Cormier-Daire7,12,
  26. Delfien Syx13,
  27. Fransiska Malfait13,
  28. Nicoletta Zoppi2,
  29. Laurent Abel1,6,7,,
  30. Tomáš Freiberger8,14,,
  31. Harry C. Dietz15,16,,
  32. Nico Marr5,17,,
  33. Stuart G. Tangye3,4,,
  34. Marina Colombi2,,
  35. Jean-Laurent Casanova1,6,7,18,19,§,|| and
  36. Anne Puel1,6,7,§,||
  1. 1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
  2. 2Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
  3. 3Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia.
  4. 4St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales 2010, Australia.
  5. 5Sidra Medicine, P.O. Box 26999, Doha, Qatar.
  6. 6Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
  7. 7University of Paris, Imagine Institute, 75015 Paris, France.
  8. 8Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno 65691, Czech Republic.
  9. 9The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  10. 10Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  11. 11Department of Clinical Immunology, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), 75010 Paris, France.
  12. 12Department of Medical Genetics, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
  13. 13Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
  14. 14Faculty of Medicine and Central European Institute of Technology, Masaryk University, Brno 62500, Czech Republic.
  15. 15McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  16. 16Howard Hughes Medical Institute, Baltimore, MD 21205, USA.
  17. 17College of Health and Life Sciences, Hamad Bin Khalifa University, P.O. Box 34110, Doha, Qatar.
  18. 18Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France.
  19. 19Howard Hughes Medical Institute, New York, NY 10065, USA.
  1. ||Corresponding author. Email: jean-laurent.casanova{at}rockefeller.edu (J.-L.C.); anne.puel{at}inserm.fr (A.P.)
  • * These authors contributed equally to this work.

  • Present address: Pfizer Emerging Science and Innovation, Cambridge, MA 02139, USA.

  • These authors contributed equally to this work.

  • § These authors contributed equally to this work.

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