Translational Autoimmunity, Volume 4: Autoimmune Diseases in Different Organs

Front Cover
Translational Autoimmunity: Autoimmune Diseases in Different Organs
Copyright
Dedication
Contents
Contributors
Preface
Series editor biography
Acknowledgment
Abbreviations
Chapter 1 Autoimmune diseases in different organs
1 Introduction
2 Autoimmune complications of the cardiovascular system
3 Autoimmune complications of the respiratory system
4 Autoimmune complications of the endocrine system
5 Autoimmune complications of the gastrointestinal system
6 Autoimmune complications of the hematological system
7 Autoimmune complications of the musculoskeletal system
8 Autoimmune complications of the nervous system
9 Autoimmune complications of the integumentary system
10 Conclusion
References
Chapter 2 Autoimmune polyendocrinopathies in pediatric age
1 Introduction
2 Autoimmune polyendocrine syndrome type 1 (APS-1)
2.1 Definition and epidemiology
2.2 Genetics
2.3 Diagnostic criteria and main clinical manifestations
2.3.1 Clinical diagnosis
2.3.2 Main clinical manifestations
Chronic mucocutaneous candidiasis (CMC)
Endocrine diseases
2.3.3 Other clinical manifestations
Chronic lung disease (CLD)
Chronic inflammatory demyelinating polyneuropathy (CIDP)
Gastrointestinal dysfunction (GID)
2.4 Treatment
3 Autoimmune polyendocrine syndrome type 2 (APS-2)
3.1 Definition and epidemiology
3.2 Genetics
3.3 Diagnostic criteria and main clinical manifestations
3.4 Treatment
4 Autoimmune polyendocrine syndrome type 3 (APS-3)
4.1 Definition and epidemiology
4.2 Genetics
4.3 Diagnostic criteria and main clinical manifestations
4.3.1 APS-3A—Association between AITD and other autoimmune endocrine diseases
4.3.2 APS-3B—Association between AITD and autoimmune diseases of the digestive system
4.3.3 APS-3C—Association between AITD and autoimmune skin, nervous system, or hematological diseases
4.3.4 APS-3D—Association between AITD and autoimmune rheumatic and cardiac diseases or vasculitis
5 IPEX syndrome
5.1 Definition, epidemiology, and genetics
5.2 Diagnostic criteria and main clinical manifestations
5.3 Therapy
6 Conclusion
References
Chapter 3 Autoimmune thyroid diseases: Peculiarities in pediatric age
1 Introduction
2 Epidemiology
3 Pathogenesis
4 Thyroid function patterns at presentation
5 Clinical manifestations
5.1 Hashimoto’s thyroiditis
5.2 Graves’ disease
6 Diagnosis
6.1 Hashimoto’s thyroiditis
6.2 Graves’ disease
7 Thyroid function patterns of evolution over time
7.1 Natural history and long-term prognosis of Hashimoto’s thyroiditis
7.2 Overlap between Hashimoto’s thyroiditis and Graves’ disease
7.3 Thyroid nodules and cancer in patients with Hashimoto’s thyroiditis
8 Therapy and management
8.1 Hashimoto’s thyroiditis
8.2 Graves’ disease
9 Newborn of mother with autoimmune thyroid disease
9.1 Neonatal hyperthyroidism
9.2 Neonatal hypothyroidism
10 Autoimmune thyroid diseases in genetic syndromes
10.1 Turner syndrome
10.2 Down syndrome
11 Conclusion
References
Chapter 4 TSH receptor autoantibodies in Graves’ disease
1 Introduction
2 Basedow-Graves’ disease: Clinical aspects
3 Graves’ orbitopathy and myxedema
4 Immunopathogenesis of Graves’ disease
5 Autoantibodies to the TSH receptor
6 Detection and measurement of autoantibodies to TSHR
7 Standardization of TRAb measurement
8 Use of TRAb in the management of Graves’ disease
9 Therapy of Graves’ disease
10 Conclusion
References
Chapter 5 The heterogeneity of type 1 diabetes: From immunopathology to immune intervention
1 Introduction
2 Heterogeneity of type 1 diabetes
2.1 Residual beta-cell function and C-peptide secretion in subjects with T1D
2.2 Genetic determinants of C-peptide persistence in T1D
2.3 Islet autoantibodies and disease progression in T1D
2.4 Age-related heterogeneity of T1D
3 The novel concept of T1D endotypes
3.1 Physiology of proinsulin processing in pancreatic beta cells and implications for T1D endotypes
4 Heterogeneity of autoimmune responses and pancreas histopathology in T1D
5 The multifaceted pathophysiology of T1D: Beyond insulin, beta cells, and endocrine pancreas
5.1 Alpha-cell dysfunction in T1D
5.2 T1D as a two-hormone deficiency disorder: The role of amylin
5.3 Abnormalities of the exocrine pancreas in T1D
6 The heterogeneous response to immunotherapies in T1D
7 Conclusion
References
Chapter 6 Pathophysiology of autoimmune orbital diseases and target therapy for orbital inflammatory and neoplastic diseases
1 Introduction
2 Thyroid eye disease
2.1 Pathophysiology
2.1.1 Autoantigens
TSH receptor
IGF-1 receptor
2.1.2 Orbital fibroblasts
2.1.3 B cells and T cells
2.1.4 Other factors
2.2 Treatment
2.2.1 Anti-TNF-alpha agents
2.2.2 Tocilizumab
2.2.3 Teprotumumab
2.2.4 Rituximab
3 Idiopathic orbital inflammatory disease (IOIS)
3.1 Treatment
3.1.1 Anti-TNF alpha agents
3.1.2 Tocilizumab
3.1.3 Rituximab
3.1.4 Daclizumab
4 Oculofacial malignancies
4.1 Treatment
4.1.1 Hedgehog inhibitors
4.1.2 Epidermal growth factor inhibitors
4.1.3 Immune checkpoint inhibitors
5 Conclusion
References
Chapter 7 Autoimmune uveitis in childhood
1 Introduction
2 Juvenile idiopathic arthritis-associated uveitis
2.1 Risk factors associated with the development of uveitis in JIA
2.2 Pathophysiology
3 Diagnosis
4 Complications
5 Treatment
5.1 Corticosteroids
5.2 Immunosuppressant agents
5.3 Biologic response modifiers
5.3.1 Tumor necrosis factor-alpha inhibitors
Infliximab
Adalimumab
5.3.2 Non-anti-TNF-alpha biologic activity modifiers
Tocilizumab
Abatacept
5.4 Other drugs
6 Conclusion
References
Chapter 8 Etiology and pathogenesis of auditory and vestibular dysfunction in patients with autoimmune disorders
1 Introduction
2 Etiopathogenesis
3 Auditory and vestibular symptoms
4 Ear symptoms and systemic autoimmune disorders
4.1 Systemic lupus erythematosus
4.2 Cogan’s syndrome
4.3 Sarcoidosis
4.4 Rheumatoid arthritis
4.5 Antiphospholipid syndrome
4.6 Polyarteritis nodosa
4.7 Behcet’s disease
4.8 Takayasu’s arteritis
4.9 Relapsing polychondritis
4.10 Granulomatosis with polyangiitis or Wegener granulomatosis
4.11 Susac’s syndrome
4.12 Sjögren’s syndrome
4.13 Myasthenia gravis
4.14 Multiple sclerosis
4.15 Vogt-Koyanagi-Harada disease
4.16 Giant cell arteritis
4.17 Ulcerative colitis
4.18 Other autoimmune conditions
5 Temporal bone aspects (inner and middle ear)
5.1 Systemic lupus erythematous
5.2 Granulomatosis with polyangiitis or Wegener granulomatosis
5.3 Polyarteritis nodosa
5.4 Rheumatoid arthritis
5.5 Cogan’s syndrome
5.6 Giant cells arteritis
5.7 Ulcerative colitis
6 Conclusion
References
Chapter 9 Autoimmune heart disease
1 Introduction
2 Background
3 Organ-specific autoimmunity
3.1 Cell-mediated autoimmune heart disease
3.1.1 Myocarditis and dilated cardiomyopathy
4 Secondary antibody-mediated autoimmune heart disease
4.1 Systemic lupus erythematosus
4.2 Rheumatoid arthritis
4.3 Sjögren’s syndrome
4.4 Systemic sclerosis
5 Conclusion
References
Chapter 10 Autoimmunity and its correlation to inflammatory vascular diseases
1 Introduction
2 Vasculitis
2.1 Large vessel vasculitis
2.1.1 Epidemiology
2.1.2 Pathology
2.1.3 Symptoms and clinical features
2.1.4 Diagnosis
2.1.5 Treatment and management
2.2 Medium vessel vasculitis
2.2.1 Kawasaki disease
2.2.1.1 Epidemiology
2.2.1.2 Pathophysiology
2.2.1.3 Symptoms
2.2.1.4 Treatment and management
2.2.2 Polyarteritis nodosa
2.2.2.1 Epidemiology
2.2.2.2 Pathology
2.2.2.3 Symptoms
2.2.2.4 Diagnosis
2.2.2.5 Treatment and management
2.3 Small vessel vasculitis
2.3.1 Granulomatosis with polyangiitis
2.3.1.1 Epidemiology
2.3.1.2 Pathophysiology
2.3.1.3 Diagnosis
2.3.1.4 Treatment and management
2.3.2 Eosinophilic granulomatosis with polyangiitis (Churg–Strauss)
2.3.2.1 Epidemiology
2.3.2.2 Pathophysiology
2.3.2.3 Management
2.3.3 Microscopic polyangiitis (MPA)
2.3.3.1 Symptoms
2.3.3.2 Diagnosis
2.3.3.3 Treatment
2.4 Immune complex small vessel vasculitis
2.4.1 Henoch-Schönlein purpura
2.4.1.1 Epidemiology
2.4.1.2 Pathophysiology
2.4.1.3 Management
2.5 Variable vessel vasculitis
2.5.1 Behçet’s disease
2.5.1.1 Symptoms
2.5.1.2 Epidemiology
2.5.1.3 Pathophysiology
2.5.1.4 Treatment
2.5.2 Thromboangiitis obliterans
2.5.2.1 Etiology and pathophysiology
2.5.2.2 Epidemiology
2.5.2.3 Patient presentation and diagnosis
2.5.2.4 Treatment and management
2.6 Microangiopathic syndrome
2.6.1 Etiology and pathophysiology
2.6.2 Epidemiology
2.6.3 Patient presentation and diagnosis
2.6.4 Treatment and management
2.6.5 Systemic lupus erythematosus
2.6.6 Tolosa-Hunt syndrome
2.6.7 Raynaud’s disease
2.6.8 IgG4-related disease
2.6.9 Psoriasis and aortopathy
2.6.9.1 Etiology and pathophysiology
2.6.9.2 Epidemiology
2.6.9.3 Patient presentation and diagnosis
2.6.9.4 Treatment and management
3 Conclusion
References
Chapter 11 Cryoglobulinemic vasculitis
1 Introduction
2 Historical background
3 Etiology and epidemiology
4 Pathogenesis
4.1 Role of HCV particles
4.1.1 Molecular mimicry theory
4.2 Role of RF activity
4.3 Role of host gene mutations and polymorphisms
4.4 The role of adaptive immune system
4.5 The role of innate immunity
4.6 The role of epigenetics
4.7 The pathogenesis in type Ι CGs
4.7.1 Hyperviscosity
4.7.2 Self-aggregation
5 Clinical presentations
5.1 Type Ι CGs induced cryoglobulinemic vasculitis
5.2 Mixed cryoglobulins induced cryoglobulinemic vasculitis
5.2.1 Cutaneous manifestations
5.2.2 Musculoskeletal manifestations (50%–75%)
5.2.3 Neurological manifestations
5.2.4 Kidney involvement
5.2.5 Cardiopulmonary involvement
5.2.6 Other clinical manifestations
6 Risk of malignancy
6.1 The risk in HCV patients
6.2 The risk in noninfectious patients
7 VII: The differential diagnosis
8 Diagnosis
8.1 Laboratory investigations
8.1.1 Detection of CGs
8.1.2 Acute phase reactants
8.1.3 Gamma globulin levels
8.1.4 Serum complement assessments
8.1.5 Other laboratory markers
8.2 Imaging
8.3 Tissue pathology
8.3.1 Cutaneous pathology
8.3.2 Renal pathological features
Light microscopy
Immunofluorescence microscopy
Electron microscopy
8.3.3 Neural biopsies
9 Classification criteria
10 Treatment
10.1 Treatment according to disease severity
10.2 Treatment according to the type of CGs and underlying disease
10.2.1 Type I CGs
10.2.2 Treatment of HCV-CV
HCV-CV treatment outcomes
Treatment of refractory CV
11 Conclusion
References
Chapter 12 Immunopathogenesis of acute disseminated encephalomyelitis
1 Introduction
2 Definition and diagnosis
3 Origins and etiologies
3.1 Postinfectious ADEM
3.2 Postvaccination ADEM
4 Immunopathogenesis
5 Clinical features
6 Neurodiagnostic features
6.1 Neuroimaging
6.2 Cerebrospinal fluid studies
6.3 Electroencephalogram
7 Treatment and prognosis
8 ADEM as a herald for relapsing neuroinflammatory disorders
8.1 ADEM and multiple sclerosis (MS)
8.2 ADEM and neuromyelitis optica spectrum disorder (NMOSD)
8.3 ADEM and MOG spectrum disorders
9 Conclusion
References
Chapter 13 Pulmonary manifestations of autoimmune diseases
1 Introduction
2 Endocrine
2.1 Addison’s disease
2.2 Graves’ disease
3 Systemic inflammatory diseases
3.1 Adult-onset Still’s disease (AOSD)
3.2 Antiphospholipid syndrome (APS)
3.3 Sarcoidosis
3.4 Systemic sclerosis (SSc)
3.5 IgG4-related disease (IgG4-RD)
3.6 Rheumatoid arthritis (RA)
3.7 Systemic lupus erythematosus (SLE)
3.8 Sjogren’s syndrome (SS)
4 Connective tissue/musculoskeletal/integumentary
4.1 Polymyositis (PM)/dermatomyositis (DM)
4.2 Psoriasis
4.3 Relapsing polychondritis (RP)
4.4 Mixed connective tissue disease (MCTD)
4.5 Undifferentiated connective tissue disease (UCTD)
5 Vascular
5.1 Large vessel vasculitis: Takayasu arteritis (TA) and giant cell arteritis (GCA)
5.2 Medium vessel vasculitis: Kawasaki disease (KD)
5.3 Small vessel vasculitis: immune complex-associated and ANCA-associated
5.3.1 Immune complex-associated: IgA vasculitis (Henoch–Schönlein purpura, HSP)
5.3.2 Antineutrophil cytoplasmic autoantibodies (ANCAs)-associated: Microscopic polyangiitis (MPA), granulomatosis with p ...
6 Nervous system
6.1 Achalasia
6.2 Stiff person syndrome (SPS)
6.3 Guillain–Barré syndrome (GBS)
6.4 Neuromyelitis optica spectrum disorder (NMOSD)
6.5 Lambert–Eaton syndrome
6.6 Multiple sclerosis (MS)
6.7 Myasthenia gravis (MG)
7 Gastrointestinal
7.1 Celiac disease (CD)
7.2 Inflammatory bowel disease (IBD)
7.2.1 Ulcerative colitis (UC)
7.2.2 Crohn’s disease (CD)
8 Other diseases
8.1 Castleman disease (CD)
8.2 Cold agglutinin disease (CAD)
9 Conclusion
References
Chapter 14 Inflammatory bowel diseases: Sex differences and beyond
1 Introduction
2 Sexual dimorphism in IBDs: Not as “nuanced” as it seems
2.1 Evidence from human studies
2.2 Evidence from animal models
3 Gut microbiome in IBD: Where do we stand?
4 Sexual dimorphism in the gut microbiome
5 Impact of the gut microbiome on sexual dimorphism in IBDs: Future perspectives and applications, from bench to bedside
6 Conclusion
References
Chapter 15 Autoimmunity of the liver
1 Introduction
2 Pathogenesis
3 Pathophysiology
4 Diagnosis
5 Therapy
6 Conclusion
References
Chapter 16 Advances in autoimmune cutaneous diseases
1 Introduction
2 Morphea or localized scleroderma
2.1 Introduction
2.2 Epidemiology
2.3 Pathophysiology
2.4 Clinical manifestations
2.4.1 Extracutaneous manifestations
2.4.2 Clinical subtypes of morphea
2.4.3 Comorbidities and malignancy
2.5 Diagnosis
2.5.1 Dermoscopy
2.5.2 Laboratory studies
2.5.3 Histopathology
2.5.4 Imaging studies
2.5.5 Activity markers
2.6 Treatment
2.6.1 Topical treatment
2.6.2 Systemic treatment
2.6.3 Surgical treatment
2.7 Prognosis
3 Dermatomyositis
3.1 Introduction
3.2 Epidemiology
3.3 Pathogenesis
3.3.1 Environmental factors
3.3.2 Genetic factors
3.3.3 Cellular immunity
3.4 Clinical manifestations
3.4.1 Cutaneous involvement
3.4.2 Extracutaneous manifestations
Muscle involvement
Lung involvement
Heart disease
Joint involvement
Gastrointestinal involvement
Involvement of other organs
Association with malignancy
3.4.3 Clinical-serological correlation in DM
Myositis-specific autoantibodies (MSAs)
Myositis-associated autoantibodies (MAAs)
3.5 Diagnosis
3.6 Treatment
3.7 Prognosis
4 Cutaneous lupus erythematosus
4.1 Introduction
4.2 Epidemiology
4.3 Pathogenesis
4.4 Clinical manifestations
4.4.1 Specific signs of lupus erythematosus
a) Dermoepidermal lupus erythematosus
Histology and laboratory findings
Histology and laboratory findings
Histology and laboratory findings
b) Dermal lupus erythematosus
c) Hypodermal lupus erythematosus
4.4.2 Nonspecific signs of lupus erythematosus
4.4.3 Drug-induced lupus erythematosus (DILE)
4.4.4 Association of CLE and SLE with autoimmune diseases
4.5 Diagnosis
4.5.1 Evaluation of disease activity
4.6 Treatment
4.6.1 General recommendations
4.6.2 Topical treatment
4.6.3 Systemic treatment
B-cell-targeted therapy
Cytokine inhibition
Anti-IL-6 monoclonal antibodies
Anti-IL-12/IL-23 monoclonal antibodies
Other therapies
5 Conclusion
References
Chapter 17 Pathogenesis-based treatments in bullous pemphigoid
1 Introduction
2 Epidemiology
3 Pathogenesis
4 Clinical manifestations
5 Diagnosis
6 Differential diagnosis
7 Treatment
7.1 Topical treatment
7.2 Systemic treatment
7.3 Adjuvant therapy
7.3.1 Azathioprine
7.3.2 Dapsone
7.3.3 Doxycycline
7.3.4 Methotrexate
7.3.5 Mycophenolate mofetil/mycophenolic acid
7.3.6 Intravenous immunoglobulin
7.3.7 Immunoadsorption/plasmapheresis
7.3.8 Biological therapy
7.3.9 Omalizumab
7.3.10 Interleukin 17 blockade
7.4 Future treatments
8 Conclusion
References
Chapter 18 Autoinflammatory disorders
1 Introduction
2 Familial Mediterranean fever (FMF)
3 Mevalonate kinase deficiency (hyper IgD syndrome)
4 Cryopyrin-associated periodic syndrome (CAPS)
5 NLRP1-associated autoinflammatory diseases
6 TNF receptor-associated periodic syndrome (TRAPS)
7 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome, hyperzincemia, and hypercalprotectinemia
8 Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)
9 Deficiency of the interleukin 1 receptor antagonist (DIRA)
10 Cherubism
11 Blau syndrome
12 CARD14-mediated psoriasis (CAMPS)
13 Deficiency of the IL-36 receptor antagonist (DITRA)
14 ADAM17 deficiency
15 SLC29A3 mutation
16 COPA defect
17 Otulipenia/ORAS
18 AP1S3 deficiency
19 A20 deficiency
20 ADA2 deficiency
21 Aicardi-Goutières syndrome (AGS)
22 Spondyloenchondrodysplasia with immune dysregulation (SPENCD)
23 STING-associated vasculopathy with onset in infancy (SAVI)
24 X-linked reticulate pigmentary disorder
25 USP18 deficiency
26 Chronic atypical neutrophilic dermatitis with lipodystrophy (CANDLE)
27 Singleton-Merten syndrome
28 Conclusion
References
Index
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