A heterozygous germline CD100 mutation in a family with primary sclerosing cholangitis

Author:

Jiang Xiaojun123ORCID,Bergquist Annika4,Löscher Britt-Sabina5ORCID,Venkatesh Geetha5,Mold Jeff E.6,Holm Kristian123,Laerdahl Jon K.78ORCID,Skånland Sigrid S.910ORCID,Maleki Kimia T.11ORCID,Cornillet Martin11ORCID,Taskén Kjetil3910ORCID,Franke Andre5,Karlsen Tom H.12312,Björkström Niklas K.11ORCID,Melum Espen1231213ORCID

Affiliation:

1. Norwegian PSC Research Center, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.

2. Research Institute of Internal Medicine, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.

3. Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, 0318 Oslo, Norway.

4. Department of Gastroenterology and Hepatology, Karolinska University Hospital Huddinge, Karolinska Institutet, 171 77 Stockholm, Sweden.

5. Institute of Clinical Molecular Biology, Kiel University, 24118 Kiel, Germany.

6. Department of Cell and Molecular Biology, Karolinska Institutet, 171 77 Stockholm, Sweden.

7. Department of Microbiology, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.

8. ELIXIR Norway, Department of Informatics, University of Oslo, 0316 Oslo, Norway.

9. K. G. Jebsen Centre for B Cell Malignancies and K. G. Jebsen Centre for Cancer Immunotherapy, Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, 0318 Oslo, Norway.

10. Department of Cancer Immunology, Institute for Cancer Research, Oslo University Hospital, 0310 Oslo, Norway.

11. Center for Infectious Medicine, Department of Medicine Huddinge, Karolinska Institutet, Karolinska University Hospital, 171 77 Stockholm, Sweden.

12. Section for Gastroenterology, Department of Transplantation Medicine, Division of Surgery, Inflammatory Diseases and Transplantation, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.

13. Hybrid Technology Hub-Centre of Excellence, Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo, 0317 Oslo, Norway.

Abstract

A mutation in CD100, identified in a family with inherited primary sclerosing cholangitis, leads to dysfunctional T cells and cholangitis development.

Funder

Swedish Foundation for Strategic Research

Karolinska Institutet

Helse Sør-Øst RHF

Novo Nordisk Foundation Center for Basic Metabolic Research

Swedish Research Council

Swedish Cancer Society

Knut and Alice Wallenberg foundation

Swedish Society for Medical Research

The Norwegian PSC Centre

Cancer Research Foundations of Radiumhemmet

Region Stockholm

the K.G. Jebsen Inflammation Research Centre

the Center for Innovative Medicine

the DFG Clinical Research Unit

the DFG Excellence Cluster ‘Precision Medicine in Chronic Inflammation’

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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