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Hanna Karhapää Medical Faculty, University of Helsinki, Helsinki, Finland
Department of Oncology, Comprehensive Cancer Centre, Helsinki University Hospital, Helsinki, Finland

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Siru Mäkelä Medical Faculty, University of Helsinki, Helsinki, Finland
Department of Oncology, Comprehensive Cancer Centre, Helsinki University Hospital, Helsinki, Finland

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Hanna Laurén Medical Faculty, University of Helsinki, Helsinki, Finland
Department of Radiology, HUS Medical Imaging Centre, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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Marjut Jaakkola Medical Faculty, University of Helsinki, Helsinki, Finland
Department of Radiology, HUS Medical Imaging Centre, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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Camilla Schalin-Jäntti Medical Faculty, University of Helsinki, Helsinki, Finland
Endocrinology, Abdominal Centre, University of Helsinki and HUS, Helsinki, Finland

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Micaela Hernberg Medical Faculty, University of Helsinki, Helsinki, Finland
Department of Oncology, Comprehensive Cancer Centre, Helsinki University Hospital, Helsinki, Finland

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-cells, and activate T-cells to attack cancer cells. ICIs used to treat metastatic melanoma include anticytotoxic T-lymphocyte-associated protein-4 (CTLA-4) MAB, ipilimumab ( 1 ) and antiprogrammed cell death protein 1 (PD-1) MAbs, nivolumab and pembrolizumab

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Maria Stelmachowska-Banaś Department of Endocrinology, The Centre of Postgraduate Medical Education, Warsaw, Polska, Poland

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Izabella Czajka-Oraniec Department of Endocrinology, The Centre of Postgraduate Medical Education, Warsaw, Polska, Poland

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of the immune response, while ICIs are monoclonal antibodies directed against certain immune checkpoints, such as cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) (ipilimumab) and programmed death 1 (PD-1) (nivolumab, pembrolizumab) and its ligand

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Marta Fichna Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland

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Piotr P Małecki Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland

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Magdalena Żurawek Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland

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Katarzyna Furman Ludwik Perzyna Regional Hospital, Kalisz, Poland

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Bolesław Gębarski Regional Outpatient Medical Centre, Katowice, Poland

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Piotr Fichna Department of Paediatric Diabetes and Obesity, Poznan University of Medical Sciences, Poznan, Poland

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Marek Ruchała Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland

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of other genes implicated in the immune function, such as PTPN22 , CTLA4 , and BACH2 , are equally associated with endocrine autoimmunity ( 15 , 16 , 17 , 18 ). PTPN22 encodes a negative regulator of T cell receptor signaling, which

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Anna Olsson-Brown Department of Molecular and Clinical Pharmacology, University of Liverpool, Liverpool, UK
The Clatterbridge Cancer Centre, Wirral, UK

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Rosemary Lord The Clatterbridge Cancer Centre, Wirral, UK

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Joseph Sacco The Clatterbridge Cancer Centre, Wirral, UK
Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, UK

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Jonathan Wagg Roche Innovation Center, Basel, Switzerland

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Mark Coles Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK

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Munir Pirmohamed Department of Molecular and Clinical Pharmacology, University of Liverpool, Liverpool, UK

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Introduction Oncological immune checkpoint inhibitors (ICI) are transforming oncological practice ( 1 , 2 , 3 ). The first ICI, ipilimumab (Yervoy®), a CTLA-4 inhibitor, was used exclusively in metastatic malignant melanoma post

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C E Higham Department of Endocrinology, Christie Hospital NHS Foundation Trust, Manchester, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK

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A Olsson-Brown The Clatterbridge Cancer Centre, Bebbington, Wirral, UK
The University of Liverpool, Brownlow Hill, Liverpool, UK

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P Carroll Department of Endocrinology, Guy’s & St. Thomas’ NHS Foundation Trust, London, UK

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T Cooksley Department of Acute Medicine, UHSM and Christie Hospital NHS Foundation Trust, Manchester, UK

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J Larkin Skin Unit, Royal Marsden Hospital, London, UK

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P Lorigan Department of Medical Oncology, Christie Hospital NHS Foundation Trust, Manchester, UK

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D Morganstein Department of Endocrinology, Chelsea and Westminster Hospital, London, UK

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P J Trainer Department of Endocrinology, Christie Hospital NHS Foundation Trust, Manchester, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK

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the Society for Endocrinology Clinical Committee The Society for Endocrinology, Starling House, 1600 Bristol Parkway North, Bristol, UK

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Introduction Immunotherapy treatment with checkpoint inhibitors (CPI) such as ipilimumab (CTLA-4 inhibitor), nivolumab and pembrolizumab (PD-1 inhibitors) significantly improves prognosis in a number of cancers ( 1 , 2 , 3 ). Combination

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Zhaoxiang Liu Department of Endocrinology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China

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Mingqiang Zhang Department of Respiratory and Critical Care Medicine, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China

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Xiaohu Shi Department of Traditional Chinese Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China

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Wenhui Zhao Department of Endocrinology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China

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Chenxiang Cao Department of Endocrinology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China

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Lixia Jin Department of Endocrinology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China

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Yanlei Wang Department of Endocrinology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China

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Jianzhong Xiao Department of Endocrinology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China

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of autoimmune diseases by suppressing effector T cells and B cells ( 6 ). The immunosuppressive mechanisms employed by Tregs include the expression of cytotoxic T-lymphocyte antigen-4 (CTLA-4) to suppress costimulation, consumption of interleukin-2

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Bliss Anderson Department of Endocrinology, Chelsea and Westminster Hospital NHS Foundation Trust, London, UK

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Daniel L Morganstein Department of Endocrinology, Chelsea and Westminster Hospital NHS Foundation Trust, London, UK

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-cell signalling pathways, that otherwise suppress immune responses to cancer cells, thereby acting to promote an anti-tumour immune response. Current agents are monoclonal antibodies targeting either cytotoxic T lymphocyte antigen 4 (anti-CTLA4), programmed cell

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Hauke Thomsen Division of Molecular Genetic Epidemiology, German Cancer Research Centre (DKFZ), Heidelberg, Germany
Center for Primary Health Care Research, Lund University, Malmö, Sweden
GeneWerk GmbH, Heidelberg, Germany

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Xinjun Li Center for Primary Health Care Research, Lund University, Malmö, Sweden

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Kristina Sundquist Center for Primary Health Care Research, Lund University, Malmö, Sweden
Departments of Family Medicine and Community Health, Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, New York, USA
Center for Community-based Healthcare Research and Education (CoHRE), Department of Functional Pathology, School of Medicine, Shimane University, Shimane, Japan

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Jan Sundquist Center for Primary Health Care Research, Lund University, Malmö, Sweden
Departments of Family Medicine and Community Health, Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, New York, USA
Center for Community-based Healthcare Research and Education (CoHRE), Department of Functional Pathology, School of Medicine, Shimane University, Shimane, Japan

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Asta Försti Division of Molecular Genetic Epidemiology, German Cancer Research Centre (DKFZ), Heidelberg, Germany
Center for Primary Health Care Research, Lund University, Malmö, Sweden
Hopp Children’s Cancer Center (KiTZ), Heidelberg, Germany
Division of Pediatric Neurooncology, German Cancer Research Centre (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany

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Kari Hemminki Division of Molecular Genetic Epidemiology, German Cancer Research Centre (DKFZ), Heidelberg, Germany
Center for Primary Health Care Research, Lund University, Malmö, Sweden
Division of Cancer Epidemiology, German Cancer Research Centre (DKFZ), Heidelberg, Germany
Faculty of Medicine and Biomedical Center in Pilsen, Charles University in Prague, Pilsen, Czech Republic

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-risk genes which are also shared between some other AIDs ( 11 ). These include AIRE, BACH2, TTPN22, CTLA4, CLEC6A and HLA-DRB1, which jointly may account for 20% of the heritability of AD ( 11 , 16 ). These genes are relevant in many immune functions. For

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Stavroula A Paschou Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, ‘Aghia Sophia’ Children’s Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

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Nektaria Papadopoulou-Marketou Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, ‘Aghia Sophia’ Children’s Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

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George P Chrousos Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, ‘Aghia Sophia’ Children’s Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

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Christina Kanaka-Gantenbein Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, ‘Aghia Sophia’ Children’s Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

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mellitus pathogenesis. A. Genetic factors  1. HLA  2. Insulin-VNTR  3. CTLA-44. Other genetic associations (PTPN22, AIRE, FoxP3, STAT3, IFIH1, HIP14, ERBB3) B. Epigenetic factors C. Environmental factors

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Jaafar Jaafar Division of Endocrinology and Diabetology, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland

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Eugenio Fernandez Department of Oncology, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland

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Heba Alwan Division of Endocrinology and Diabetology, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland

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Jacques Philippe Division of Endocrinology and Diabetology, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland

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against either PD-1 or PD-L1. Figure 1 illustrates immune checkpoint pathways and their inhibitors. Figure 1 Immune checkpoint pathways and their inhibitors. APC, antigen presenting cell; CD28, cluster of differentiation 28; CTLA-4, cytotoxic T

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