Autoimmune Disease Associated with Different Clinical Features
Edited by
Nima Rezaei
Professor, Department of Immunology, School of Medicine; Head, Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences; Founding President, Universal Scientific Education and Research Network (USERN), Tehran, Iran
Editorial Assistant
Niloufar Yazdanpanah
Managing Director, Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network, (USERN); and School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
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Dedication
This book would not have been possible without the continuous encouragement from my family. I dedicate this book to my daughters, Ariana and Arnika, with the hope that we learn enough from today to make a brighter future for the next generation.
Contributors xi
Preface xv
Series editor biography xvii
Acknowledgment xix
Abbreviations xxi
1. Introduction on autoimmunity and associated conditions
Nima Rezaei and Niloufar Yazdanpanah
1 Introduction 1
2 Autoimmunity and infection 2
3 Autoimmunity and genetic syndromes 3
4 Autoimmunity and inborn errors of immunity 6
5 Autoimmunity and malignancies 8
6 Autoimmunity and associated conditions affecting patients’ quality of life 8
2 Autoimmunity and cancer mechanisms: Clinical features and similar mechanisms 18
3 Rheumatoid arthritis 28
4 Systemic lupus erythematosus 29
5 Sjögren’s syndrome 29
6 Systemic sclerosis 29
7 Idiopathic inflammatory myopathy 30
8 ANCA-associated vasculitis 30
9 Conclusion 39
References 40
3. Autoimmunity regulation within the tumor microenvironment
Irina Palacín-Aliana, Josefa Carrión-Navarro, Ángel Ayuso-Sacido, and Noemí García-Romero
1 Introduction 52
2 Targeting immune checkpoints in cancer immunotherapy 53
3 Coinhibitory checkpoint pathways to cancer 54
4 Costimulatory checkpoint pathways on cancer 60
5 Conclusion 63 References 63
4. Mechanisms of immune tolerance breakdown in inborn errors of immunity
Giuliana Giardino, Emilia Cirillo, Rosaria Prencipe, Roberta Romano, Francesca Cillo, Elisabetta Toriello, Veronica De Rosa, and Claudio Pignata
1 Introduction 74
2 Mechanisms implicated in the disruption of immune tolerance in IEI 74
3 Central tolerance disruption 75
4 Alterations of peripheral tolerance 83
5 Conclusion 88
References 89
5. Autoimmunity in combined immunodeficiency
Andrew R. Gennery
1 Introduction 97
2 Severe combined immunodeficiencies 101
3 Combined immunodeficiencies 106
4 Combined immunodeficiencies associated with significant autoimmunity 106
5 Combined immunodeficiencies rarely associated with autoimmunity 112
6 Combined immunodeficiencies not associated with autoimmunity 115
7 Conclusion 120 References 120
6. Autoimmunity and autoimmune diseases in primary selective IgM deficiency
Sudhir Gupta and Ankmalika Gupta
1 Introduction 129
2 Natural IgM antibodies 130
3 Role of IgM in autoimmunity and autoimmune diseases 131
4 Autoimmunity and autoimmune diseases in selective IgM deficiency 134
5 Conclusion 136 References 136
7. Autoimmunity and HIV infection
Luis Ramos Ruperto, Carmen Busca Arenzana, Angel Robles Marhuenda, and Jose I. Bernardino
1 Introduction 141
2 HIV structure 142
3 HIV infection 142
4 HIV and autoimmunity 149
5 Autoimmune diseases in the HIV patient 156
6 Conclusion 161 References 161
8. Autoimmune diseases and metabolic disorders: Molecular connections and potential therapeutic targets
Md Jamal Uddin, Dang Khoa Tran, Md Abdul Hannan, Hasan-Al-Faruque, Md. Ataur Rahman, Akhi Moni, Nguyen Thanh Lam, Vo Truong Nhu Ngoc, and Dinh-Toi Chu
1 Introduction 170
2 Molecular mechanisms of autoimmune responses and autoimmune diseases 171
3 Molecular connections between autoimmune diseases and some important metabolic disorders 173
4 Potential molecular targets to control autoimmune diseases and metabolic disorders 178
5 Conclusion 179 References 180
9. Autoimmunity and infertility
Tao Zhang, Xiaoyan Chen, Tin Chiu Li, Chi Chiu Wang, and Jacqueline Pui Wah Chung
1 Introduction 186
2 The association between autoimmunity and female infertility 186
3 The association between autoimmunity and male infertility 193
4 Clinical implications of serum autoantibodies in IVF/ICSI-ET 195
5 Conclusion 200
References 200
10. Autoimmune disease of the cardiovascular system Davood Shafie
1 Introduction 207
2 Rheumatic heart disease 208
3 Myocarditis 209
4 Vasculitis 213
5 Conclusion 221
References 221
11. Allergy and autoimmunity: Share of genetics and environment
Kalaivani Manibarathi, Chit Tong Lio, and Tanima Bose
1 Introduction 232
2 Key elements regulating allergy and autoimmune disease 232
3 Immunopathological reactions—Allergy and autoimmunity subtypes 247
4 Conclusion 250
References 251
12. Asthma and autoimmunity
Ourania S. Kotsiou
1 Introduction 261
2 Asthma endotypes—An overview 262
3 Autoimmune responses following chronic inflammation 265
4 Asthma and autoimmunity 265
5 Conclusion 278
References 279
13. Autoimmunity in interstitial lung disease
Gianluca Sambataro, Domenico Sambataro, Veronica Adiletta, and Paolo Maria Leone
1 Introduction 291
2 Interstitial lung disease in systemic sclerosis 293
3 Rheumatoid arthritis 298
4 Other rheumatic conditions associated with ILD 303
5 Conclusion 304 References 304
14. Role of autoimmunity in the pathogenesis of chronic obstructive pulmonary disease and pulmonary emphysema
Francesco Nucera, Phil M. Hansbro, Vincenzo Casolaro, Ramapraba Appanna, Paul Kirkham, Ian M. Adcock, and Gaetano Caramori
1 Introduction 312
2 Animal models of chronic obstructive pulmonary disease (COPD) and pulmonary emphysema 312
3 Autoimmune responses in the pathogenesis of stable COPD and pulmonary emphysema 315
4 Regulatory T (Treg) cells in the autoimmune pathogenesis of stable COPD and pulmonary emphysema 318
5 B-cells and autoantibody-mediated lung damage in the pathogenesis of stable COPD and pulmonary emphysema 318
6 Other autoantibodies in COPD and pulmonary emphysema 321
7 Complement system and autoimmunity in COPD and pulmonary emphysema 322
8 Role of the microbiota in COPD and pulmonary emphysema 323
9 Cell-mediated autoimmune lung damage in the pathogenesis of stable COPD and pulmonary emphysema 323
10 Therapeutic implications 324
11 Conclusion 325 References 325
15. Oxidative stress in oral autoimmune disorders
Mahdieh-Sadat Moosavi
1 Introduction 333
2 Oxidative stress and the immune system 334
3 Biomarkers of oxidative stress in oral autoimmune disorders 335
4 Antioxidants and related treatments for oral autoimmune disorders 338
5 Conclusion 340 References 341
16. Autoimmunity and psychosis
Milica M. Borovcanin, Marija Milovanovic, Katarina Vesic, Nemanja N. Muric, Jelena Milovanovic, Aleksandar N. Arsenijevic, and Nebojsa N. Arsenijevic
1 Introduction 343
2 Infection, inflammation, and autoimmunity in psychosis 344
3 Mechanisms of autoimmunity in the central nervous system 346
4 Autoimmune encephalitis and psychosis 348
5 Multiple sclerosis and psychosis 350
6 Autoimmune epilepsy and psychosis 352
7 Nonneurological autoimmune disorders and psychosis 353
8 Possible causal treatment of psychosis in autoimmune diseases 356
9 Conclusion 356 References 357
Index 367
Contributors
Ian M. Adcock National Heart and Lung Institute, Imperial College London, London, United Kingdom
Veronica Adiletta Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy
Ramapraba Appanna Department of Medicine, Surgery and Dentistry “Scuola Medica Salernitana”, University of Salerno, Salerno, Italy
Carmen Busca Arenzana HIV Unit, Department of Internal Medicine, Hospital Universitario La Paz, IdiPAZ, Madrid, Spain
Aleksandar N. Arsenijevic Center for Molecular Medicine and Stem Cell Research, Faculty of Medical Sciences, University of Kragujevac, Kragujevac, Serbia
Nebojsa N. Arsenijevic Center for Molecular Medicine and Stem Cell Research, Faculty of Medical Sciences, University of Kragujevac, Kragujevac, Serbia
Ángel Ayuso-Sacido Faculty of Experimental Sciences, Universidad Francisco de Vitoria; Brain Tumor Laboratory, Fundación Vithas, Grupo Hospitales Vithas; Faculty of Medicine, Universidad Francisco de Vitoria, Madrid, Spain
Jose I. Bernardino HIV Unit, Department of Internal Medicine, Hospital Universitario La Paz, IdiPAZ, Madrid, Spain
Milica M. Borovcanin Department of Psychiatry, Faculty of Medical Sciences, University of Kragujevac, Kragujevac, Serbia
Tanima Bose Institute for Clinical Neuroimmunology, Ludwig Maximilian University of Munich (LMU), Munich, Germany
Gaetano Caramori Pulmonology, Department of Biomedical Sciences, Dentistry and Morphological and Functional Imaging
(BIOMORF), University of Messina, Messina, Italy
Josefa Carrión-Navarro Faculty of Experimental Sciences, Universidad Francisco de Vitoria, Madrid, Spain
Vincenzo Casolaro Department of Medicine, Surgery and Dentistry “Scuola Medica Salernitana”, University of Salerno, Salerno, Italy
Xiaoyan Chen Department of Obstetrics and Gynaecology, Faculty of Medicine, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong Special Administrative Region; Shenzhen Baoan Women’s and Children’s Hospital, Shenzhen University, Shenzhen, China
Dinh-Toi Chu Center for Biomedicine and Community Health, VNU-International School, Hanoi, Viet Nam
Jacqueline Pui Wah Chung Department of Obstetrics and Gynaecology, Faculty of Medicine, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong Special Administrative Region
Francesca Cillo Department of Translational Medical Sciences—Section of Pediatrics, University of Naples Federico II, Naples, Italy
Emilia Cirillo Department of Translational Medical Sciences—Section of Pediatrics, University of Naples Federico II, Naples, Italy
Noemí García-Romero Faculty of Experimental Sciences, Universidad Francisco de Vitoria, Madrid, Spain
Leonardo Garcia-Velazquez University of Paraná, Unipar, Paraná, Brazil
Andrew R. Gennery Translational and Clinical Research Institute, Newcastle University, Paediatric Immunology + HSCT, Great North Children’s Hospital, Newcastle upon Tyne, United Kingdom
Contributors
Giuliana Giardino Department of Translational Medical Sciences—Section of Pediatrics, University of Naples Federico II, Naples, Italy
Ankmalika Gupta Foundation for Primary Immunodeficiency Diseases, Newport Beach, CA, United States
Sudhir Gupta Division of Basic and Clinical Immunology, University of California at Irvine, Irvine, CA, United States
Md Abdul Hannan Department of Biochemistry and Molecular Biology, Bangladesh Agricultural University, Mymensingh, Bangladesh
Phil M. Hansbro Centre for Inflammation, Centenary Institute and University of Technology Sydney, Faculty of Science, Sydney, NSW, Australia
Hasan-Al-Faruque ABEx Bio-Research Center, Dhaka, Bangladesh; Division of Biotechnology, Daegu Gyeongbuk Institute of Science and Technology, Daegu, Republic of Korea
Rodrigo Kern Laboratory of Tumor Biology, Post-Graduation Program in Applied Health Sciences, State University of West Paraná, Unioeste, Paraná, Francisco Beltrão, Brazil
Paul Kirkham Department of Biomedical Sciences and Physiology, School of Medicine, University of Wolverhampton, Wolverhampton, United Kingdom
Ourania S. Kotsiou Faculty of Nursing, School of Health Sciences, University of Thessaly, Larissa, Greece
Nguyen Thanh Lam Center for Biomedicine and Community Health, VNU-International School, Hanoi, Viet Nam
Paolo Maria Leone Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy
Tin Chiu Li Department of Obstetrics and Gynaecology, Faculty of Medicine, The Chinese University of Hong Kong, Prince of Wales Hospital; Chinese University of Hong Kong-Sichuan University Joint Laboratory in Reproductive Medicine, The Chinese University of Hong Kong, Shatin, Hong Kong Special Administrative Region
Chit Tong Lio Chair of Experimental Bioinformatics, Technical University of Munich, Freising; Chair of Computational Systems Biology, University of Hamburg, Hamburg, Germany
Kalaivani Manibarathi Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen; Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany
Angel Robles Marhuenda Autoimmune Diseases Unit, Department of Internal Medicine, Hospital Universitario La Paz, Madrid, Spain
Jelena Milovanovic Center for Molecular Medicine and Stem Cell Research, Faculty of Medical Sciences, University of Kragujevac, Kragujevac, Serbia
Marija Milovanovic Center for Molecular Medicine and Stem Cell Research, Faculty of Medical Sciences, University of Kragujevac, Kragujevac, Serbia
Akhi Moni ABEx Bio-Research Center, Dhaka, Bangladesh
Mahdieh-Sadat Moosavi Oral and Maxillofacial Medicine Department, School of Dentistry, Tehran University of Medical Sciences, Tehran, Iran
Nemanja N. Muric Department of Psychiatry, Faculty of Medical Sciences, University of Kragujevac, Kragujevac, Serbia
Vo Truong Nhu Ngoc School of Odonto Stomatology, Hanoi Medical University, Hanoi, Viet Nam
Francesco Nucera Pulmonology, Department of Biomedical Sciences, Dentistry and Morphological and Functional Imaging (BIOMORF), University of Messina, Messina, Italy
Leticia Madureira Pacholak Laboratory of Tumor Biology, Post-Graduation Program in Applied Health Sciences, State University of West Paraná, Unioeste, Paraná, Francisco Beltrão, Brazil
Carolina Panis Laboratory of Tumor Biology, Post-Graduation Program in Applied Health Sciences, State University of West Paraná, Unioeste, Paraná, Francisco Beltrão, Brazil
Claudio Pignata Department of Translational Medical Sciences—Section of Pediatrics, University of Naples Federico II, Naples, Italy
Rosaria Prencipe Institute of Experimental Endocrinology and Oncology, National Research Council, Naples, Italy
Md. Ataur Rahman ABEx Bio-Research Center, Dhaka, Bangladesh; Center for Neuroscience, Korea Institute of Science and Technology (KIST), Seoul, Republic of Korea
Nima Rezaei Research Center for Immunodeficiencies, Children's Medical Center; Department of Immunology, School of Medicine, Tehran University of Medical Sciences; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran
Roberta Romano Department of Translational Medical Sciences—Section of Pediatrics, University of Naples Federico II, Naples, Italy
Veronica De Rosa Institute of Experimental Endocrinology and Oncology, National Research Council, Naples, Italy
Luis Ramos Ruperto Autoimmune Diseases Unit, Department of Internal Medicine, Hospital Universitario La Paz, Madrid, Spain
Domenico Sambataro Artroreuma s.r.l., Outpatient Clinic of Rheumatology Associated With the National Health System, Mascalucia (CT), Italy
Gianluca Sambataro Department of Clinical and Experimental Medicine, Regional Referral Center for Rare Lung Diseases, “Policlinico S. Marco”, University of Catania, Catania; Artroreuma s.r.l., Outpatient Clinic of Rheumatology Associated With the National Health System, Mascalucia (CT), Italy
Thalita Basso Scandolara Post-Graduation Program in Biological Sciences (Genetics), Federal University of Rio de Janeiro, UFRJ,
Rio de Janeiro; Laboratory of Tumor Biology, Post-Graduation Program in Applied Health Sciences, State University of West Paraná, Unioeste, Paraná, Francisco Beltrão, Brazil
Davood Shafie Heart Failure Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran
Isabella Morais Tavares University of Paraná, Unipar, Paraná, Brazil
Elisabetta Toriello Department of Translational Medical Sciences—Section of Pediatrics, University of Naples Federico II, Naples, Italy
Dang Khoa Tran Department of Anatomy, Pham Ngoc Thach University of Medicine, Ho Chi Minh City, Viet Nam
Md Jamal Uddin Graduate School of Pharmaceutical Sciences, College of Pharmacy, Ewha Womans University, Seoul, Republic of Korea; ABEx Bio-Research Center, Dhaka, Bangladesh
Katarina Vesic Department of Neurology, Faculty of Medical Sciences, University of Kragujevac, Kragujevac, Serbia
Chi Chiu Wang Department of Obstetrics and Gynaecology, Faculty of Medicine, The Chinese University of Hong Kong, Prince of Wales Hospital; Li Ka Shing Institute of Health Sciences and School of Biomedical Sciences, The Chinese University of Hong Kong; Chinese University of Hong Kong-Sichuan University Joint Laboratory in Reproductive Medicine, The Chinese University of Hong Kong, Shatin, Hong Kong Special Administrative Region
Niloufar Yazdanpanah Research Center for Immunodeficiencies, Children's Medical Center; School of Medicine, Tehran University of Medical Sciences; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran
Tao Zhang Department of Obstetrics and Gynaecology, Faculty of Medicine, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong Special Administrative Region
Preface
The scientific world has witnessed remarkable developments in the field of immunology during recent decades. Novel discovery of genes related to different immune-mediated diseases has enhanced our knowledge about the immune system and its interactions with other systems in the human body and enlightened different aspects of its complexity that lead to promoting diagnostic strategies, designing more efficient therapeutic agents, and reducing potential morbidities and mortality. Due to the broad spectrum of immune-mediated diseases, from immunodeficiency to hypersensitivity and autoimmune diseases, the immune system diseases collectively contribute to a considerable prevalence, although every single immune-mediated disease represents a low prevalence.
The responsibility of applying the latest research findings had long been a concern for scientists. Translational research is recognized as a potential tool to utilize scientific findings in clinical settings and patients’ care.
Considering the wide spectrum of diseases related to the immune system besides the huge burden for individuals, health care settings, families, and society, identifying promising alternative diagnostic and therapeutic strategies through translational studies is of interest.
The Translational Immunology book series is a major new suite of books in immunology, which cover both basic and clinical immunology. The series seeks to discuss and provide foundational content from bench to bedside in immunology. This series intends to discuss recent immunological findings and translate them into clinical practice. The first volumes of this book series are specifically devoted to autoimmune diseases.
Translational Autoimmunity: Autoimmune Disease Associated With Different Clinical Features attempts to highlight the most important comorbidities and medical conditions associated with autoimmune diseases. Infections are one of the pivotal factors in inducing autoimmunity. However, patients with autoimmune diseases are prone to specific types of infections. Therefore, there is a bidirectional association between autoimmunity and infections. Autoimmune manifestations have been reported as representative symptoms of different genetic syndromes. Moreover, despite being recognized as different classes in the spectrum of immune-related diseases, autoimmunity is frequently reported in different types of inborn errors of immunity (IEIs). Cancer and autoimmunity each imparts a huge burden on patients; however, these conditions are mutually connected, which could multiply the burden. Autoimmunity could represent
as a manifestation of different cancers, while the risk of both solid tumors and hematological malignancies is enhanced in autoimmune diseases, mainly due to the chronic inflammatory state and different genetic mutations. Considering the chronic nature of autoimmune diseases, it massively affects patients’ quality of life because it is associated with more morbidities such as infertility, obesity, and mental disorders. This book starts by recapitulating the most important conditions associated with autoimmune diseases in Chapter 1, which briefly discusses the possible shared background of autoimmunity with each of the associated conditions. Chapters 2 and 3 reveal the complex association between autoimmunity and cancer. Chapters 4–6 dive deep into the association of autoimmunity with IEIs. The importance of human immunodeficiency virus (HIV) infection in the current epidemic of HIV is well known. Therefore, Chapter 7 is devoted to HIV (acquired immunodeficiency disease (AIDS)) and autoimmunity. Since autoimmune diseases massively affect patients’ quality of life due to the chronic course of the disease and the life-long need to take medications, assessing all the possible medical complications that could be prevented is of interest. To achieve this important aim, Chapters 8 and 9 discuss the association of autoimmunity with
metabolic disorders and infertility, respectively. Autoimmunity in respiratory diseases and autoimmune diseases of the cardiovascular system, as the two vital systems in the body, is explored in Chapters 10 (cardiovascular diseases), 11 (allergy), 12 (asthma), 13 (interstitial lung disease), and 14 (chronic obstructive pulmonary disease and emphysema). Chapter 15 portrays one of the important mechanisms of autoimmune-based injuries in oral diseases. Finally, Chapter 16 focuses on the association of autoimmune conditions with mental disorders to further highlight the role of the immune system in psychiatric diseases.
The Translational Immunology book series is the outcome of the invaluable contribution of scientists and clinicians from well-known universities/institutes worldwide. I hereby appreciate and acknowledge the expertise of all contributors for generously devoting their time and considerable effort in preparing their respective chapters. I also express my gratitude to Elsevier for providing me the opportunity to publish this book. Finally, I hope this translational book will be comprehensible, cogent, and of special value to researchers and clinicians who wish to extend their knowledge on immunology.
Nima Rezaei
Series editor biography
Professor Nima Rezaei earned his MD from Tehran University of Medical Sciences and subsequently obtained an MSc in Molecular and Genetic Medicine and a PhD in Clinical Immunology and Human Genetics from the University of Sheffield, United Kingdom. He also received a short-term fellowship in
Pediatric Clinical Immunology and Bone Marrow Transplantation in the Newcastle General Hospital. Professor Rezaei is now Full Professor of Immunology and Vice Dean of International Affairs, School of Medicine, Tehran University of Medical Sciences, and the cofounder and head of the Research Center for Immunodeficiencies. He is also the founding president of Universal Scientific Education and Research Network (USERN). Professor Rezaei has already been the director of more than 50 research projects and has designed and participated in several international collaborative projects. Professor Rezaei is an editorial assistant and board member for more than 30 international journals. He has edited more than 30 international books, presented more than 500 lectures/posters in congresses/meetings, and published more than 1000 scientific papers in international journals.
Acknowledgment
I express my gratitude to the editorial assistant of this book, Dr. Niloufar Yazdanpanah, without whose contribution this book definitely would not have been completed.
