The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity

Author:

Salzer Elisabeth1234ORCID,Zoghi Samaneh12356ORCID,Kiss Máté G.37ORCID,Kage Frieda89ORCID,Rashkova Christina1310,Stahnke Stephanie9ORCID,Haimel Matthias123ORCID,Platzer René11,Caldera Michael3ORCID,Ardy Rico Chandra123ORCID,Hoeger Birgit123ORCID,Block Jana123,Medgyesi David1,Sin Celine3ORCID,Shahkarami Sepideh51213,Kain Renate14,Ziaee Vahid1516ORCID,Hammerl Peter17,Bock Christoph13ORCID,Menche Jörg3ORCID,Dupré Loïc118ORCID,Huppa Johannes B.11ORCID,Sixt Michael19,Lomakin Alexis123ORCID,Rottner Klemens89ORCID,Binder Christoph J.37,Stradal Theresia E. B.9ORCID,Rezaei Nima5620ORCID,Boztug Kaan123410ORCID

Affiliation:

1. Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.

2. St. Anna Children’s Cancer Research Institute (CCRI), Vienna, Austria.

3. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.

4. St. Anna Children’s Hospital, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

5. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

6. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

7. Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.

8. Division of Molecular Cell Biology, Zoological Institute, Technische Universität Braunschweig, Braunschweig, Germany.

9. Department of Cell Biology, Helmholtz Centre for Infection Research, Braunschweig, Germany.

10. Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

11. Institute for Hygiene and Applied Immunology, Center for Pathophysiology, Infectiology and Immunology, Medical University of Vienna, Vienna, Austria.

12. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

13. Medical Genetics Network (MeGeNe), Universal Scientific Education and Research Network (USERN), Tehran, Iran.

14. Department of Pathology, Medical University of Vienna, Vienna, Austria.

15. Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.

16. Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.

17. Department of Molecular Biology, University of Salzburg, Salzburg, Austria.

18. Center for Pathophysiology of Toulouse Purpan, INSERM UMR1043, CNRS UMR5282, Paul Sabatier University, Toulouse, France.

19. Institute of Science and Technology Austria, Klosterneuburg, Austria.

20. Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.

Abstract

HEM1 deficiency causes heritable autoimmunity and immunodeficiency.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine,Immunology

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