Table Of ContentTranslational Immunology
TRANSLATIONAL AUTOIMMUNITY,
VOL. 4
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Translational Immunology
TRANSLATIONAL
AUTOIMMUNITY,
VOL. 4
Autoimmune Diseases in Different
Organs
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.
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Contents
Contributors xi 4 Autoimmune polyendocrine syndrome type 3
Preface xv (APS-3) 28
5 IPEX syndrome 33
Series editor biography xvii
6 Conclusion 34
Acknowledgment xix References 34
Abbreviations xxi
3. Autoimmune thyroid diseases:
1. Autoimmune diseases in different Peculiarities in pediatric age
organs Giorgia Pepe, Angelo Tropeano, Celeste Casto, Alessandra Li Pomi,
and Malgorzata Wasniewska
Nima Rezaei and Niloufar Yazdanpanah
1 Introduction 39
1 Introduction 1
2 Epidemiology 40
2 Autoimmune complications of the cardiovascular
3 Pathogenesis 41
system 2
4 Thyroid function patterns at presentation 44
3 Autoimmune complications of the respiratory
5 Clinical manifestations 45
system 4
6 Diagnosis 48
4 Autoimmune complications of the endocrine
7 Thyroid function patterns of evolution over
system 4
time 50
5 Autoimmune complications of the
8 Therapy and management 52
gastrointestinal system 7
9 Newborn of mother with autoimmune thyroid
6 Autoimmune complications of the hematological
disease 56
system 8
10 Autoimmune thyroid diseases in genetic
7 Autoimmune complications of the
syndromes 59
musculoskeletal system 8
11 Conclusion 62
8 Autoimmune complications of the nervous
References 62
system 9
9 Autoimmune complications of the integumentary 4. TSH receptor autoantibodies
system 10
in Graves’ disease
10 Conclusion 11
References 11 Renato Tozzoli and Nicola Bizzaro
1 Introduction 69
2. Autoimmune polyendocrinopathies 2 Basedow-Graves’ disease: Clinical aspects 70
in pediatric age 3 Graves’ orbitopathy and myxedema 71
4 Immunopathogenesis of Graves’ disease 72
Domenico Corica, Mariella Valenzise, Carmen Bonanno,
5 Autoantibodies to the TSH receptor 73
Tommaso Aversa, and Malgorzata Wasniewska
6 Detection and measurement of autoantibodies to
1 Introduction 16 TSHR 74
2 Autoimmune polyendocrine syndrome 7 Standardization of TRAb measurement 77
type 1 (APS-1) 17 8 Use of TRAb in the management of Graves’
3 Autoimmune polyendocrine syndrome type 2 disease 77
(APS-2) 26 9 Therapy of Graves’ disease 78
vii
viii Contents
10 Conclusion 79 8. Etiology and pathogenesis of auditory
References 79 and vestibular dysfunction in patients with
autoimmune disorders
5. The heterogeneity of type 1 diabetes:
Arianna Di Stadio, Massimo Ralli, Michael J. Brenner,
From immunopathology to immune
and Antonio Greco
intervention
1 Introduction 139
Marco Infante, Rodolfo Alejandro, Andrea Fabbri,
2 Etiopathogenesis 142
and Camillo Ricordi
3 Auditory and vestibular symptoms 142
1 Introduction 84 4 Ear symptoms and systemic autoimmune
2 Heterogeneity of type 1 diabetes 85 disorders 143
3 The novel concept of T1D endotypes 87 5 Temporal bone aspects (inner and middle
4 Heterogeneity of autoimmune responses and ear) 151
pancreas histopathology in T1D 90 6 Conclusion 161
5 The multifaceted pathophysiology of T1D: References 161
Beyond insulin, beta cells, and endocrine
9. Autoimmune heart disease
pancreas 93
6 The heterogeneous response to immunotherapies Danielle J. Beetler, Katelyn A. Bruno, and DeLisa Fairweather
in T1D 96
7 Conclusion 97 1 Introduction 167
References 98 2 Background 169
3 Organ-specific autoimmunity 171
6. Pathophysiology of autoimmune 4 Secondary antibody-mediated autoimmune heart
disease 177
orbital diseases and target therapy for
5 Conclusion 181
orbital inflammatory and neoplastic
References 181
diseases
10. Autoimmunity and its correlation
Farzad Pakdel, Timothy J. Sullivan, and Niloofar Pirmarzdashti
to inflammatory vascular
1 Introduction 106
diseases
2 Thyroid eye disease 106
3 Idiopathic orbital inflammatory disease Callum Howard, Jonathan Sheridan, Leonardo Picca, Wahaj
Munir, Nehman Meharban, Prassana Karthik, Mohammed Idhrees,
(IOIS) 113
Emmanuel Keddy Momoh, and Mohammad Bashir
4 Oculofacial malignancies 114
5 Conclusion 117 1 Introduction 190
References 117 2 Vasculitis 190
3 Conclusion 219
7. Autoimmune uveitis in childhood References 220
Ilaria Maccora, Edoardo Marrani, Maria Vincenza Mastrolia,
11. Cryoglobulinemic vasculitis
Ilaria Pagnini, and Gabriele Simonini
Mohamed A. Hussein, Mohamed Tharwat Hegazy, Ahmed Fayed,
1 Introduction 121
Luca Quartuccio, and Gaafar Ragab
2 Juvenile idiopathic arthritis-associated
uveitis 123 1 Introduction 230
3 Diagnosis 124 2 Historical background 230
4 Complications 126 3 Etiology and epidemiology 231
5 Treatment 126 4 Pathogenesis 231
6 Conclusion 131 5 Clinical presentations 234
References 131 6 Risk of malignancy 236
Contents ix
7 VII: The differential diagnosis 237 3 Gut microbiome in IBD: Where do
8 Diagnosis 237 we stand? 299
9 Classification criteria 241 4 Sexual dimorphism in the gut
10 Treatment 242 microbiome 301
11 Conclusion 244 5 Impact of the gut microbiome on sexual
References 245 dimorphism in IBDs: Future perspectives
and applications, from bench to
12. Immunopathogenesis of acute bedside 303
6 Conclusion 304
disseminated encephalomyelitis
References 305
Nusrat Ahsan and Jonathan D. Santoro
1 Introduction 249 15. Autoimmunity of the liver
2 Definition and diagnosis 251
Angelo Armandi, Giovanni Clemente Actis, and
3 Origins and etiologies 251 Davide Giuseppe Ribaldone
4 Immunopathogenesis 252
5 Clinical features 254 1 Introduction 309
6 Neurodiagnostic features 255 2 Pathogenesis 311
7 Treatment and prognosis 256 3 Pathophysiology 315
8 ADEM as a herald for relapsing 4 Diagnosis 317
neuroinflammatory disorders 256 5 Therapy 322
9 Conclusion 258 6 Conclusion 325
References 259 References 325
13. Pulmonary manifestations of
16. Advances in autoimmune cutaneous
autoimmune diseases
diseases
Tess Moore Calcagno and Mehdi Mirsaeidi
Silvia Angélica Carmona-Cruz and María Teresa García-Romero
1 Introduction 265
1 Introduction 333
2 Endocrine 269
2 Morphea or localized scleroderma 334
3 Systemic inflammatory diseases 270
3 Dermatomyositis 344
4 Connective tissue/musculoskeletal/
4 Cutaneous lupus erythematosus 355
integumentary 275
5 Conclusion 368
5 Vascular 278
References 368
6 Nervous system 280
7 Gastrointestinal 285
8 Other diseases 287 17. Pathogenesis-based treatments
9 Conclusion 287 in bullous pemphigoid
References 288
Andrés Tirado-Sánchez and Alexandro Bonifaz
14. Inflammatory bowel diseases: Sex 1 Introduction 374
differences and beyond 2 Epidemiology 374
3 Pathogenesis 375
Alessandra Soriano, Marco Soriano, Marina Beltrami, Francesca
4 Clinical manifestations 378
Sanguedolce, Andrea Palicelli, Maurizio Zizzo, Stefano Ascani,
Magda Zanelli, and Theresa T. Pizarro 5 Diagnosis 378
6 Differential diagnosis 378
1 Introduction 296 7 Treatment 379
2 Sexual dimorphism in IBDs: Not as “nuanced” as 8 Conclusion 384
it seems 297 References 384
