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

Author:

Li Juan1ORCID,Ritelli Marco2ORCID,Ma Cindy S.34ORCID,Rao Geetha3,Habib Tanwir5ORCID,Corvilain Emilie67,Bougarn Salim5ORCID,Cypowyj Sophie1,Grodecká Lucie8ORCID,Lévy Romain67ORCID,Béziat Vivien67ORCID,Shang Lei1,Payne Kathryn3ORCID,Avery Danielle T.3ORCID,Migaud Mélanie67ORCID,Boucherit Soraya67ORCID,Boughorbel Sabri5,Guennoun Andrea5ORCID,Chrabieh Maya67,Rapaport Franck1ORCID,Bigio Benedetta1,Itan Yuval1910,Boisson Bertrand167ORCID,Fieschi Claire11,Cormier-Daire Valérie712,Syx Delfien13ORCID,Malfait Fransiska13ORCID,Zoppi Nicoletta2ORCID,Abel Laurent167ORCID,Freiberger Tomáš814ORCID,Dietz Harry C.1516ORCID,Marr Nico517ORCID,Tangye Stuart G.34ORCID,Colombi Marina2ORCID,Casanova Jean-Laurent1671819ORCID,Puel Anne167ORCID

Affiliation:

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

2. Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

3. Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia.

4. St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales 2010, Australia.

5. Sidra Medicine, P.O. Box 26999, Doha, Qatar.

6. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.

7. University of Paris, Imagine Institute, 75015 Paris, France.

8. Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno 65691, Czech Republic.

9. The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

10. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

11. Department of Clinical Immunology, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), 75010 Paris, France.

12. Department of Medical Genetics, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.

13. Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.

14. Faculty of Medicine and Central European Institute of Technology, Masaryk University, Brno 62500, Czech Republic.

15. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

16. Howard Hughes Medical Institute, Baltimore, MD 21205, USA.

17. College of Health and Life Sciences, Hamad Bin Khalifa University, P.O. Box 34110, Doha, Qatar.

18. Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France.

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

Abstract

Human JNK1 is essential for IL-17A/F–dependent mucocutaneous immunity to Candida and for TGF-β–dependent homeostasis of connective tissues.

Funder

National Institute of Allergy and Infectious Diseases

National Center for Research Resources

Jeffrey Modell Foundation

ST. GILES FOUNDATION

Rockefeller University

National Health and Medical Research Council

Ministry of Health of the Czech Republic

NSW Government Ministry of Health

Agence Nationale de la Recherche

Institut national de la santé et de la recherche médicale

Université Paris Descartes

Assistance publique-Hôpitaux de Paris

National Center for Advancing Translational Sciences

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine,Immunology

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