ZNF341 controls STAT3 expression and thereby immunocompetence

Author:

Frey-Jakobs Stefanie1ORCID,Hartberger Julia M.1ORCID,Fliegauf Manfred1ORCID,Bossen Claudia1ORCID,Wehmeyer Magdalena L.1,Neubauer Johanna C.1,Bulashevska Alla1,Proietti Michele1,Fröbel Philipp1,Nöltner Christina1ORCID,Yang Linlin1,Rojas-Restrepo Jessica1,Langer Niko1,Winzer Sandra1ORCID,Engelhardt Karin R.2,Glocker Cristina1,Pfeifer Dietmar3ORCID,Klein Adi4,Schäffer Alejandro A.5ORCID,Lagovsky Irina67,Lachover-Roth Idit8ORCID,Béziat Vivien910ORCID,Puel Anne91011ORCID,Casanova Jean-Laurent910111213ORCID,Fleckenstein Bernhard14,Weidinger Stephan15ORCID,Kilic Sara S.16ORCID,Garty Ben-Zion617,Etzioni Amos18,Grimbacher Bodo11920ORCID

Affiliation:

1. Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

2. Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK.

3. Department of Hematology, Oncology and Stem Cell Transplantation, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

4. Department of Pediatrics, Hillel Yaffe Medical Center, Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

5. National Center for Biotechnology Information, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20894, USA.

6. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

7. Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel.

8. Allergy and Immunology Clinic, Meir Medical Center, Kfar Saba, Israel.

9. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.

10. Paris Descartes University, Imagine Institute, 75015 Paris, France.

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

12. Pediatric Hematology–Immunology Unit, Necker Hospital for Sick Children, Assistance Publique des Hôpitaux de Paris, 75015 Paris, France.

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

14. Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, Erlangen, Germany.

15. Department of Dermatology, Venereology and Allergology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.

16. Department of Pediatric Immunology, Uludag University Medical Faculty, Gorukle-Bursa, Turkey.

17. Allergy and Immunology Clinic, Schneider Children’s Medical Center, Tel Aviv, Israel.

18. Ruth’s Children Hospital, Rambam Health Care Campus and Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

19. Institute of Immunology and Transplantation, Royal Free Hospital and University College London, London, UK.

20. DZIF (German Center for Infection Research) Satellite Center Freiburg, Germany.

Abstract

Homozygous nonsense mutations in ZNF341 impair its ability to activate STAT3 transcription and thereby cause immunodeficiency.

Funder

National Institutes of Health

U.S. National Library of Medicine

Deutsche Forschungsgemeinschaft

German Center for Infection Research

German Ministry of Education and Research

European Commission EURO-CMC

Jeffrey Modell Foundation Translational Research Program

E-rare program of the European Commission EURO-CMC

Freiburg University Clinics and Else Kröner Fresenius-Stiftung

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine,Immunology

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