Textbook of autoinflammation 1st Edition by Philip J Hashkes, Anna Simon, Ronald M Laxer ISBN 9783319986050 3319986058

Textbook of autoinflammation 1st Edition by Philip J Hashkes, Anna Simon, Ronald M Laxer – Ebook PDF Instant Download/Delivery: 9783319986050 ,3319986058
Full download Textbook of autoinflammation 1st Edition after payment

Product details:
ISBN 10: 3319986058
ISBN 13: 9783319986050
Author: Philip J Hashkes, Anna Simon, Ronald M Laxer

This book, the first complete textbook on this novel field in Medicine, comprehensively covers the clinical presentation, pathogenesis, genetics, and latest management strategies for autoinflammatory disorders as well as the basic science of autoinflammation. Relevant concepts such as how translational science of genetics and immunology relates to the innate immune system and autoinflammation are covered. Descriptions of the monogenic and polygenic/complex diseases that fall under the umbrella of autoinflammatory diseases are provided. Further topics covered include the latest clinical and genetic diagnostic approaches, concepts on the relationship between autoinflammation and autoimmunity/immunodeficiency, the role of autoinflammation in cancer, treatments and management strategies for these diseases, and potential areas of future development.
The __Textbook of Autoinflammation__ systematically describes and reviews diagnostic and treatment options for autoinflammatory disorders as well as all aspects of the concept of autoinflammation, and represents a valuable resource for professionals in a variety of disciplines who encounter these patients or who study autoinflammation.

Textbook of autoinflammation 1st Edition Table of contents:

Part I: Introduction
1: Autoinflammation: Past, Present, and Future
1.1 ‘Ancient’ History
1.1.1 First Discoveries: The Birth of Autoinflammation
1.2 The ‘Eureka’ Decade
1.2.1 Expanding the Discovery of Diseases Caused by Genetic Mutations
1.2.2 Early Thoughts on Pathophysiologic Mechanisms
1.3 Horror Autoinflammaticus: The Golden Age of Autoinflammation
1.3.1 New Discoveries of Rare Mongenic Autoinflammatory Diseases
1.3.2 Expanded Understanding of Disease Pathophysiology Related to the Innate Immune System and Novel Genetic Mechanisms
1.3.3 Expansion of Autoinflammation to Non-monogenic and Common Diseases
1.4 Nomenclature of the Autoinflammatory Diseases
1.5 Quō vādis? Autoinflammation and the Human Condition
1.6 Questions for the Next Decade
References
Part II: Basic Science and Biology of Autoinflammation
2: Genetic Aspects of Investigating and Understanding Autoinflammation
2.1 Introduction
2.2 Autoinflammatory Diseases: Approaches to Gene Identification
2.2.1 Experimental Methods Used in the Pre-NGS Era
2.2.2 DNA Sequencing: The Sanger Method
2.2.3 DNA Sequencing: The NGS Method
2.2.4 NGS-Based Techniques for New Gene Discovery
2.3 Autoinflammatory Diseases: Approaches to Molecular Genetic Diagnosis
2.3.1 NGS-Based Gene Panels
2.3.2 Other Approaches Employed in Patients with Autoinflammatory Disorders
2.3.2.1 Array-Comparative Genomic Hybridization (aCGH)
2.3.2.2 Real-Time Polymerase Chain Reaction (PCR)
2.3.2.3 Gene Expression in Autoinflammatory Disease
2.4 Gene Mosaicism
2.4.1 Germline and Post-zygotic Mutations
2.4.2 Tissue Distribution of Gene Mosaicism
2.4.3 State of the Art in Monogenic Autoinflammatory Diseases
2.4.3.1 Somatic NLRP3 Mosaicism in Cryopyrin-Associated Periodic Syndromes (CAPS)
Myeloid-Restricted Somatic NLRP3 Mosaicism
Localization of Post-zygotic Mutations in the NLRP3 Gene
2.4.3.2 Somatic Mosaicism in Other Monogenic Autoinflammatory Diseases
2.4.3.3 Gonadal and Gonosomal Gene Mosaicism
2.4.4 Conclusions on Genetic Mosaicism
References
3: Epigenetics in Autoinflammation
3.1 Introduction
3.2 Epigenetic Control in Immune Cells
3.2.1 DNA Methylation and Histone Modifications
3.2.2 Epigenetic Control of Differentiation of Hematopoietic Stem Cells
3.3 Epigenetic Control in Inflammation
3.4 Perspectives on Autoinflammatory Diseases
3.4.1 Cryopyrin-Associated Periodic Syndromes (CAPS)
3.4.2 Familial Mediterranean Fever (FMF)
3.4.3 Mevalonate Kinase Deficiency (MKD)
3.4.4 Behçet Disease
3.4.5 Chronic Non-bacterial Osteomyelitis (CNO)
3.4.6 Crohn Disease
3.5 Conclusions
References
4: Pattern Recognition Receptors in Autoinflammation
4.1 Introduction: Molecular Patterns and Processes
4.1.1 Pathogen-Associated Molecular Patterns (PAMPs)
4.1.2 Damage- or Danger-Associated Molecular Patterns (DAMPs)
4.1.3 Homeostasis-Altering Molecular Processes (HAMPs)
4.2 Toll Like Receptors (TLRs)
4.2.1 TLRs 1, 2, 6, 10
4.2.2 TLR4
4.2.3 TLR5
4.2.4 TLR3
4.2.5 TLRs 7, 8, 9
4.3 NOD-Like Receptors (NLRs)
4.3.1 NOD1
4.3.2 NOD2
4.4 Other Pattern Recognition Receptors (PRRs)
4.4.1 RIG-I Like Receptors (RLRs)
4.4.2 C-Type Lectin Receptors (CLRs)
4.4.3 Absent in Melanoma 2 (AIM2)
4.4.4 cGAMP Synthase (cGAS) and Stimulator of Interferon Genes (STING)
4.4.5 Non-canonical Inflammasome
4.5 Conclusion
References
5: Inflammasomes and Autoinflammation
5.1 Introduction
5.2 The Inflammasome
5.2.1 Assembly of the Inflammasome
5.2.1.1 Apoptosis-Associated Speck-Like Protein with a CARD (ASC)
5.2.1.2 Caspase-1
Caspase-1 in Cytokine Release
Caspase-1 in Pyroptosis
Additional Roles for Caspase-1
5.2.1.3 Inflammasomes as DAMPs
5.2.1.4 Inflammasome Triggers: An Overview
5.2.1.5 Inflammasome Regulation
5.2.1.6 Non-canonical Inflammasomes
5.3 Individual Inflammasomes
5.3.1 NLRP1
5.3.1.1 Regulation of NLRP1
5.3.1.2 Activators of NLRP1
5.3.1.3 NLRP1 in Autoinflammatory Disease
5.3.2 NLRP3
5.3.2.1 Regulation of NLRP3
5.3.2.2 Activators of NLRP3
5.3.2.3 NLRP3 in Autoinflammatory Disease
5.3.3 Pyrin
5.3.3.1 Activation of Pyrin
5.3.3.2 Regulation of Pyrin
5.3.3.3 Pyrin in Autoinflammatory Disease
5.3.4 NLRC4
5.3.4.1 NLRC4 in Disease
5.4 Other Inflammasomes
5.4.1 NLRP6
5.4.1.1 NLRP6 in Autoinflammatory Disease
5.4.2 NLRP7
5.4.2.1 Regulation of NLRP7
5.4.2.2 NLRP7 Triggers
5.4.2.3 NLRP7 in Disease
5.4.3 NLRP12
5.4.3.1 NLRP12 in Disease
5.4.4 Absent in Melanoma 2 (AIM2)
5.4.4.1 AIM2 in Disease
5.5 Summary
References
6: Cytokines in Autoinflammation
6.1 Introduction
6.2 The Interleukin (IL)-1 Family
6.2.1 Processing of IL-1F Cytokines: Canonical and Non-canonical Inflammasome Activation
6.2.1.1 Canonical Inflammasomes
6.2.1.2 Non-canonical Inflammasome
6.2.2 Secretion of IL-1F Cytokines
6.2.2.1 Secretory Mechanisms for IL-1β (and IL-18)
Vesicle Mediated Secretion
Direct Transport Across the Plasma Membrane
6.2.2.2 IL-1α and IL-33 Extracellular Release
6.2.3 IL-1F Member-Linked Autoinflammatory Diseases
6.2.3.1 IL-1-Mediated Autoinflammatory Diseases
Cryopyrin-Associated Periodic Syndromes (CAPS)
Deficiency of IL-1Ra (DIRA)
IL-1α in Autoinflammatory Diseases
6.2.3.2 IL-18 in Autoinflammatory Diseases
6.2.3.3 Deficiency of IL-36 Receptor Antagonist (DITRA)
6.2.4 Role of Stress in Autoinflammatory Diseases Mediated by IL-1F Members
6.3 Type I Interferons
6.3.1 Diseases Associated with Elevated Type I Interferons
References
7: Proteasomes in Autoinflammation
7.1 Concept of Protein Homeostasis and Its Importance in Preserving Cell Function and Integrity
7.1.1 The Ubiquitin-Proteasome System
7.1.2 Structure of the Proteasome
7.1.3 Proteasome Assembly
7.1.4 Alternative Proteasomes
7.1.5 Further Sources of Proteasome Substrates
7.2 Protein Homeostasis Perturbations
7.2.1 Physiological Perturbations
7.2.2 Pathological Protein Homeostasis Perturbations
7.3 Cellular Responses to Unbalanced Protein Homeostasis
7.3.1 The Unfolded Protein Response
7.3.2 Cellular Responses to Proteasome Inhibition
References
8: Disruption of Protein Homeostasis and Activation of Cellular Stress Pathways in Autoinflammation
8.1 Cellular Mechanisms Maintaining Protein Homeostasis and Links to Inflammation Biology
8.1.1 The Proteasome
8.1.2 Autophagy
8.2 Protein Homeostasis in the Pathogenesis and Regulation of Monogenic Autoinflammatory Diseases
8.2.1 Degradation of Inflammasomes Through Autophagy (Fig. 8.2)
8.2.2 Regulation of Cyclic Guanosine Monophosphate-Adenosine Monophosphate Synthetase (cGAS) and Stimulator of Interferon Genes-(STING) Pathway by Autophagy
8.2.3 Accumulation of Misfolded Mutated Proteins
8.3 Alteration in Protein Homeostasis Mechanisms and Triggering of Inflammatory Responses by Misfolded Proteins in Complex Diseases
8.3.1 Defects in the Autophagy Pathway
8.3.2 Accumulation of Intracellular Misfolded Proteins (Fig. 8.2)
8.3.3 Accumulation of Extracellular Misfolded Proteins
8.4 Targeting Protein Homeostasis for the Therapy of Autoinflammatory Diseases: Future Perspectives
References
9: S100 Proteins in Autoinflammation
9.1 Functions of Phagocyte-Specific S100 Proteins
9.1.1 Intracellular Functions
9.1.2 Release from Phagocytes
9.1.3 Extracellular Functions
9.1.4 Function as Danger Associated Molecular Pattern (DAMP)
9.2 S100 Proteins in Autoinflammatory Diseases
9.2.1 Monogenic Autoinflammatory Syndromes
9.2.1.1 Familial Mediterranean Fever (FMF)
9.2.1.2 PSTPIP1 Associated Inflammatory Diseases (PAID)
9.2.1.3 Cryopyrin-Associated Periodic Syndromes (CAPS)
9.2.2 Polygenic Autoinflammatory Diseases
9.2.2.1 Systemic Juvenile Idiopathic Arthritis (SJIA)
9.2.2.2 Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA) Syndrome
9.3 S100 Proteins in Clinical Practice
9.3.1 Use as Biomarkers
9.3.2 Differential Diagnosis of Fever of Unknown Origin (FUO)
9.3.3 Monitoring Therapies
9.3.4 Prediction of Relapses
References
Part III: General Approach to Autoinflammatory Diseases
10: Classification of Genetically Defined Autoinflammatory Diseases
10.1 Introduction
10.2 Clinical Classification of Autoinflammatory Diseases
10.2.1 Group 1. Recurrent/Episodic Fever and Abdominal Pain with Absence or Sporadic Presence of Maculopapular Rashes (Hereditary Periodic Fever Syndromes)
10.2.1.1 Recurrent Fever Attacks of Short Duration (Typically ≤7 days)
Familial Mediterranean Fever (FMF)
Hyperimmunoglobulinemia D with Periodic Fever Syndrome (HIDS)/Mevalonate Kinase Deficiency (MKD)
10.2.1.2 Recurrent Fever Attacks with Longer Duration (Typically >7 days)
TNF Receptor-Associated Periodic Syndrome (TRAPS)
10.2.2 Group 2. Syndromes Presenting with Neutrophilic Urticaria (e.g. Cryopyrin-Associated Periodic Syndrome—CAPS)
10.2.2.1 Recurrent Fever Attacks of Short Duration (Typically <24–72 h)
Familial Cold Autoinflammatory Syndrome (FCAS)
10.2.2.2 Continuous Low-Grade Inflammation with Exacerbations of Febrile Episodes
Muckle-Wells Syndrome (MWS) and Neonatal-Onset Multisystem Inflammatory Disease (NOMID)
10.2.3 Group 3. Syndromes Presenting with Pustular Skin Rashes and Episodic Fevers
10.2.3.1 IL-1-Mediated Pyogenic Disorders with Sterile Osteomyelitis
Deficiency of the Interleukin 1 Receptor Antagonist (DIRA)
Majeed Syndrome
10.2.3.2 Partially IL-1-Mediated Pyogenic Disorders with Pyogenic Arthritis
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne (PAPA) Syndrome
10.2.3.3 Pyogenic Disorders with Behçet Disease-Like Phenotype
Haploinsufficiency of 20 (HA20)
10.2.3.4 Pyogenic, Psoriasis-Like Disorders Caused by IL23/IL-17 Mediated Cytokine Dysregulation
Deficiency of the Interleukin-36 Receptor Antagonist (DITRA)
Caspase Activation and Recruitment Domains (CARD)14 Mediated Psoriasis (CAMPS)
AP1S3-Mediated Psoriasis (AMPS)
10.2.3.5 Pyogenic Disorders with Inflammatory Bowel Disease
Very Early-Onset Inflammatory Bowel Disease (VEOIBD)
Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1)
10.2.3.6 Pyogenic Disorders Caused by a Variety of Mechanisms
Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis (PAAND)
Periodic Fever, Immunodeficiency and Thrombocytopenia (PFIT) Syndrome
10.2.4 Group 4. Syndromes of Vasculopathy and Panniculitis/Lipodystrophy (Unresponsive to IL-1 Blockade)
10.2.4.1 Type-I Interferon (IFN) Mediated
Chronic Atypical Neutrophilic dermatosis with Lipodystrophy and Elevated Temperature Syndrome (CANDLE) or Proteasome-Associated Autoinflammatory Syndromes (PRAAS)
10.2.4.2 Other Pathways, Partially TNF Dependent
OTULIN-Related Autoinflammatory Syndrome (ORAS)/Otulipenia)
10.2.5 Group 5. Syndromes of Vasculopathy and/or Vasculitis with Livedo Reticularis
10.2.5.1 Vasculopathy and/or Vasculitis with Livedo Reticularis without Significant Demyelination and with Interstitial Lung Disease (Type-I IFN Mediated)
Stimulator of IFN Genes (STING)-Associated Vasculopathy with Onset in Infancy (SAVI)
10.2.5.2 Vasculopathy and/or Vasculitis with Livedo Reticularis with Severe Demyelinating Central Nervous System Disease (Type-I IFN Mediated)
Aicardi-Goutières Syndromes (AGS)
10.2.5.3 Vasculopathy and/or Vasculitis with Livedo Reticularis with Spondyloenchondrodysplasia (Type-I IFN Mediated)
Spondyloenchondrodysplasia with Immune Dysregulation (SPENCD)
10.2.5.4 Vasculopathy and/or Vasculitis with Livedo Reticularis Associated with Strokes and/or Cytopenias and Immunodeficiency (Responsive to TNF Inhibition)
Deficiency of Adenosine Deaminase 2 (DADA2)
10.2.6 Group 6. Autoinflammatory Disorders with Granulomatous Skin Diseases
10.2.6.1 Autoinflammatory Disorders with Granulomatous Skin Diseases without Significant Immunodeficiency
Blau Syndrome or Pediatric Granulomatous Arthritis (PGA)
10.2.6.2 Autoinflammatory Disorders with Granulomatous Skin Diseases with Variable Features of Immunodeficiency and Significant Central Nervous System Disease
PLCγ2 Associated Antibody Deficiency and Immune Dysregulation (PLAID/APLAID)
NF-κB Essential Modulator (NEMO) Deleted Exon 5 Autoinflammatory Syndrome—X-Linked (NDAS)
10.2.7 Group 7. Autoinflammatory Syndromes Associated with Macrophage Activation Syndrome (MAS), Hyperferritinemia and Various Skin Rashes
10.2.7.1 Autoinflammatory Syndromes Associated with Macrophage Activation Syndrome (MAS)
NLRC4-associated autoinflammatory syndromes
Monogenic Still Disease Caused by LACC1
10.2.7.2 Diseases Associated with Natural Killer (NK) and Cytotoxic T Cell Defects that Cause Familial Hemophagocytic Lymphohistiocytosis (FHL) Often with Prominent Immunodeficiency
10.2.8 Conditions with Too Little Data to Classify Based on Pathogenic Mechanisms
10.3 Pathogenesis-Based Disease Classification
10.3.1 Stimulation of IL-1 Activating Inflammasomes and Response to IL-1 Blocking Agents Define IL-1 Mediated Autoinflammatory Diseases (Fig. 10.2a)
10.3.2 Activation Pathways that Lead to Type-I IFN Production and/or a Chronic Presence of an IFN Response Gene Signature Define Type-I IFN Mediated Autoinflammatory Diseases or Autoinflammatory Interferonopathies (Fig. 10.2b)
10.3.3 Disorders Associated with IL-18 Overproduction, Hyperferritinemia and a Predisposition to the Development of MAS via NK Cell Dysfunction and Increased IL-18 Axis (Fig. 10.2c)
10.3.4 Mutations Leading to IL-23/IL-17 Cytokine Amplification in the Skin (Fig. 10.2d)
10.3.5 Ubiquitination Disorders That Modify NF-kB Signaling Cause Autoinflammatory Phenotypes (Fig. 10.2e)
10.3.6 NOD2 Mutations and Granulomatous Inflammation (Fig. 10.2e)
10.4 Conclusion
References
11: Clinical Approach to the Diagnosis of Autoinflammatory Diseases
11.1 Introduction
11.2 When to Suspect an Autoinflammatory Syndrome
11.3 Systematic Clinical Approach
11.3.1 Age at Onset
11.3.2 Ethnicity/Geographic Origin
11.3.3 Family History/Consanguinity
11.3.4 Triggers
11.3.5 Duration of Attack
11.3.6 Interval Between Attacks
11.3.7 Periodicity
11.3.8 Laboratory Testing
11.3.9 Response to Treatment
11.4 System Involvement
11.4.1 Dermatologic Manifestations
11.4.2 Musculoskeletal Manifestations
11.4.3 Ophthalmologic Manifestations
11.4.4 Central Nervous System (CNS) Manifestations
11.4.5 Gastrointestinal Manifestations
11.4.6 Reticuloendothelial Manifestations
11.4.7 Chest and Respiratory Manifestations
11.4.8 Immune Disturbances
11.5 Clues to the Diagnosis of Specific Classic Autoinflammatory Diseases
11.5.1 Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA) Syndrome
11.5.2 Familial Mediterranean Fever (FMF)
11.5.3 Mevalonate Kinase Deficiency (MKD)
11.5.4 Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS)
11.5.5 Cryopyrin-Associated Periodic Syndromes (CAPS)
11.5.6 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne (PAPA) Syndrome
11.5.7 Behçet Disease
11.5.8 Deficiency of Adenosine Deaminase 2 (DADA2)
11.6 Diagnostic vs. Classification Criteria for Differentiating Autoinflammatory Diseases
11.7 Diagnostic Criteria for Specific Diseases
11.7.1 Criteria for Familial Mediterranean Fever (FMF)
11.7.2 Criteria for the Cryopyrin-Associated Periodic Syndromes (CAPS)
11.7.3 Criteria for the Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA) Syndrome
11.8 A New Approach to Classification Criteria
11.9 The Approach to Undiagnosed Patients with an Unspecified Autoinflammatory Disorder
References
12: Genetic Approach to the Diagnosis of Autoinflammatory Diseases
12.1 Introduction
12.1.1 Relevant Dedicated Websites
12.1.2 Clinical Versus Genetic Diagnosis
12.2 Modes of Transmission
12.2.1 Classic Modes of Inheritance of Autoinflammatory Diseases
12.2.2 Unusual Modes of Inheritance
12.3 Genes Currently Explored
12.4 Methods of Sequencing
12.4.1 Sanger
12.4.1.1 Frequent Mutations and/or Mutational Hot Spots in the Gene
12.4.1.2 Confirmation of Biochemical Test
12.4.2 Next Generation Sequencing (NGS)
12.4.2.1 Targeted Gene Panels
12.4.2.2 Whole Exome Sequencing (WES)
12.4.2.3 Whole Genome Sequencing (WGS)
12.4.3 Other Approaches
12.5 Interpretation
12.5.1 Variant Type
12.5.2 Variant Location
12.5.3 Variant Pathogenicity
12.5.4 Confirmation of the Diagnosis
12.6 Diagnostic Issues
12.6.1 Test Sensitivity
12.6.2 Variable Modes of Inheritance/Phenotype of a Given Gene
12.6.2.1 MEFV
12.6.2.2 MVK
12.6.3 Issues in Interpretations of Low Frequency Genetic Variants
12.7 Conclusions
References
13: Monitoring Disease Activity, Damage and Quality of Life
13.1 Main Objectives and Principles in the Follow-Up of Patients with Autoinflammatory Diseases
13.2 Initial Evaluation
13.3 Principles of Autoinflammatory Disease Follow-Up
13.4 Disease-Specific Disease Monitoring
13.4.1 Familial Mediterranean Fever (FMF)
13.4.2 Mevalonate Kinase Deficiency (MKD)
13.4.3 Cryopyrin Associated Periodic Syndrome (CAPS)
13.5 Monitoring Disease Activity
13.5.1 Autoinflammatory Disease Activity Index (AIDAI)
13.6 Monitoring Response to Treatment
13.6.1 FMF50
13.6.2 Adherence to Treatment
13.7 Monitoring Damage
13.7.1 Occurrence of Damage
13.7.1.1 Amyloidosis and Renal Failure
13.7.1.2 Infertility
13.7.1.3 Growth and Development
13.7.1.4 Serosal Scarring
13.7.1.5 Neuropsychiatric Damage
13.7.1.6 Hearing Loss
13.7.1.7 Ocular Damage
13.7.1.8 Musculoskeletal Damage
13.7.2 Monitoring Damage: The Autoinflammatory Disease Damage Index (ADDI)
13.8 Monitoring the Severity of Autoinflammatory Diseases
13.9 Monitoring Quality of Life (QoL)
13.9.1 Juvenile Autoinflammatory Disease Multidimensional Assessment Report (JAIMAR)
13.10 Conclusion
References
14: The Role of International Registries for Rare Autoinflammatory Diseases
14.1 Introduction: The Need for International Registries on Rare Conditions; Why Eurofever
14.1.1 Other Previous and Current Registries on Autoinflammatory Diseases
14.2 The Advent of the Eurofever Project
14.2.1 How the Eurofever Registry Was Developed
14.3 What Did We Learn from the Registry?
14.3.1 Data from Common Autoinflammatory Conditions
14.3.1.1 Familial Mediterranean Fever (FMF)
14.3.1.2 Cryopyrin-Associated Periodic Syndromes (CAPS)
14.3.1.3 Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS)
14.3.1.4 Mevalonate Kinase Deficiency (MKD)
14.3.1.5 Chronic Non-bacterial Osteomyelitis (CNO)
14.3.2 Genotype-Phenotype Correlations
14.3.3 Development of New Classification Criteria
14.3.4 Validation of Disease Activity and Damage Scores
14.3.5 Response to Treatment
14.4 Conclusions
References
15: Systemic Amyloidosis
15.1 Introduction
15.2 Fibril Formation and Amyloid Proteins
15.3 Pathogenesis of Amyloidosis Accumulation and Degradation
15.4 Epidemiology
15.5 Types of Amyloidosis
15.5.1 Systemic AA Amyloidosis
15.5.1.1 Autoinflammatory Diseases and Amyloidosis
Serum Amyloid A (SAA) Polymorphisms
Risk Factors for Amyloidosis in Familial Mediterranean Fever (FMF)
Risk Factors for Amyloidosis in the Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS)
Risk Factors for Amyloidosis in the Cryopyrin-Associated Periodic Syndrome (CAPS)
15.5.1.2 Clinical Features
15.5.2 Systemic AL Amyloidosis
15.5.2.1 Clinical Manifestations
15.5.3 Hereditary Systemic Amyloidosis
15.5.3.1 Familial Amyloid Polyneuropathy
15.5.3.2 Non neuropathic Systemic Amyloidosis
15.5.3.3 Wildtype Transthyretin Amyloidosis (Previously Known as Senile Systemic Cardiac Amyloidosis)
15.6 Diagnosis
15.6.1 Histology
15.6.2 Determining the Fibril Precursor Protein
15.6.3 Proteomics and Mass Spectrometry
15.6.4 Genetic Sequencing
15.7 Assessment of Organ Involvement and Function
15.7.1 Imaging
15.7.1.1 Serum Amyloid P (SAP) Component Scintigraphy
15.7.1.2 Cardiac Imaging
15.7.2 Cardiac Rhythm Analysis
15.7.3 Biochemical Analysis
15.7.3.1 Investigations for Clonal Disease
15.7.3.2 Cardiac Biomarkers
15.7.3.3 Renal Biomarkers
15.7.3.4 Liver Function Tests
15.8 Treatment
15.8.1 General Management Principles
15.8.1.1 Supportive Care
15.8.1.2 Organ Transplantation in Hereditary Amyloidosis
15.8.2 Treatment of AA Amyloidosis
15.8.3 Treatment of AL Amyloidosis
15.8.4 Novel Therapeutic Approaches in Clinical Trials
15.8.4.1 Anti-amyloid Antibodies
References
Part IV: Monogenic Autoinflammatory Diseases
16: Familial Mediterranean Fever
16.1 Introduction and History
16.2 Definition/Classification
16.3 Epidemiology
16.4 Etiology
16.4.1 Other Genetic Variants
16.5 Pathogenesis
16.5.1 Cytokine Profile During FMF Attacks
16.5.2 Pathogenesis at the Molecular Level
16.5.2.1 Inflammasome Assembly
16.5.2.2 The Pyrin Inflammasome
16.5.2.3 Pyrin and Cytoskeleton Microtubules
16.5.2.4 A Gain-of-Function Model
16.5.3 Potential Population Advantage Among Carriers of MEFV Mutation
16.6 Clinical Findings
16.6.1 Musculoskeletal Manifestations
16.6.2 Less Common Clinical Manifestations
16.6.3 Diseases Associated with FMF or MEFV Mutations
16.7 Amyloidosis
16.8 Laboratory Investigations
16.9 Diagnosis
16.10 Treatment
16.10.1 Colchicine
16.10.1.1 Colchicine Mechanisms of Activity
16.10.1.2 Colchicine Treatment Recommendations
16.10.1.3 Colchicine Safety
16.10.2 Interleukin (IL)-1 Inhibition in Colchicine-Resistant FMF
16.10.3 Other Treatment Issues
16.10.3.1 Treatment of Acute Attacks
16.10.3.2 Treatment of Chronic Arthritis
16.10.3.3 Treatment of Protracted Febrile Myalgia Syndrome (PFMS)
16.10.3.4 Biologic Treatment of Amyloidosis
16.11 Outcome
16.11.1 Outcome Measurement Tools in FMF
16.11.2 Outcome of Patients with FMF
16.11.3 Future Challenges
References
17: Mevalonate Kinase Deficiency
17.1 Introduction
17.2 Epidemiology
17.3 Etiology and Pathogenesis
17.3.1 Etiology
17.3.2 Pathogenesis
17.4 Clinical Manifestations
17.4.1 Hyperimmunoglobulinemia-D Syndrome (HIDS) Phenotype
17.4.2 Mevalonic Aciduria (MA) Phenotype
17.4.3 Other Clinical Phenotypes Associated with Mutations in Mevalonate Kinase
17.5 Laboratory Investigations
17.6 Diagnosis
17.7 Treatment
17.7.1 Control of Inflammatory Episodes: Anti-inflammatory Treatment
17.7.2 Stem Cell Transplantation
17.7.3 Treatment of Other Symptoms, Especially in MA
17.8 Outcome/Prognosis
References
18: Tumor Necrosis Factor (TNF) Receptor-Associated Periodic Syndrome (TRAPS)
18.1 Introduction and Epidemiology
18.2 Etiology: The Genetic Basis of TRAPS
18.3 Pathogenesis/Immunopathology
18.4 Clinical Presentation and Features
18.4.1 Overview of Clinical Manifestations
18.4.2 Dermatologic Manifestations
18.4.3 Other Manifestations
18.4.4 Clinical Data from Registries
18.5 Laboratory Investigations
18.6 Diagnosis
18.7 Treatment
18.7.1 Tumor Necrosis Factor (TNF) Inhibitors
18.7.2 Interleukin (IL)-1 and IL-6 Inhibitors
18.7.3 Potential Novel Treatment Pathways
18.8 Outcome
18.9 Concluding Remarks
References
19: Cryopyrin-Associated Periodic Syndromes (CAPS)
19.1 Introduction
19.2 Epidemiology
19.3 Etiology (Genetics)
19.4 Pathogenesis
19.5 Clinical Manifestations
19.5.1 Three Distinct Diseases Versus One Continuous Spectrum of Disease
19.5.2 CAPS Signs and Symptoms
19.5.2.1 Cutaneous Involvement
19.5.2.2 Musculoskeletal Involvement
19.5.2.3 Ocular Involvement
19.5.2.4 Audiologic Involvement
19.5.2.5 Neurologic Involvement
19.6 Laboratory Testing
19.7 Imaging
19.8 Diagnosis
19.8.1 CAPS Diagnosis Is Often Delayed
19.8.2 CAPS Is Diagnosed Clinically and Genetically
19.8.3 Differential Diagnosis
19.8.4 Diagnostic Criteria
19.8.5 Diagnostic Challenges
19.9 Treatment
19.10 Outcomes
References
20: Autoinflammatory Granulomatous Disease: Blau Syndrome
20.1 Introduction
20.2 Epidemiology
20.3 Etiology
20.4 Pathogenesis
20.5 Pathology
20.6 Clinical Manifestations
20.6.1 Cutaneous Involvement
20.6.2 Articular Disease
20.6.3 Ocular Disease
20.6.4 Visceral and Systemic Involvement
20.7 Laboratory Testing
20.8 Imaging
20.9 Diagnosis
20.9.1 Pathology
20.9.2 Genetic Testing
20.10 Differential Diagnosis
20.11 Treatment
20.12 Prognosis
References
21: Very Early Onset Inflammatory Bowel Disease (VEOIBD)
21.1 Introduction
21.2 Definition and Classification
21.3 Epidemiology
21.4 Etiology and Pathogenesis
21.4.1 Nucleotide-Binding Oligomerization Domain-Containing Protein 2 (NOD2)
21.4.2 Environmental Factors
21.4.3 Clinical Manifestations
21.4.4 Genetics in VEOIBD
21.5 Polygenic Forms of VEOIBD
21.5.1 Nicotinamide Adenine Dinucleotide Phosphate (NADPH) Oxidase
21.5.2 Nitric Oxide Synthase 2 (NOS2)
21.5.3 NADPH Oxidase-1 (NOX2) and Dual Oxidase-2 (DUOX2)
21.6 Monogenic Forms of VEOIBD
21.6.1 Immunodysregulation, Polyendocrinopathy, Enteropathy X-Linked (IPEX) Syndrome
21.6.2 X-Linked Inhibitor of Apoptosis (XIAP)
21.6.3 Lipopolysaccharide-Responsive and Beige-Like Anchor (LRBA)/Cytotoxic T Lymphocyte-Associated Protein 4 (CTLA)
21.6.4 Tripartite Motif-Containing 22 (TRIM22)
21.6.5 Interleukin-10 Receptor A/B (IL-10RA/B)
21.6.6 Chronic Granulomatous Disease (CGD)
21.6.7 Tetratricopeptide Repeat Domain 7 (TTC7A)
21.6.8 Actin-Related Protein Complex 1B (ARPC1B)
21.6.9 Hyperinflammatory and Autoinflammatory Disorders
21.7 Diagnosis of VEOIBD
21.8 Treatment and Outcomes of Monogenic VEOIBD
References
22: Pyogenic Arthritis Pyoderma Gangrenosum and Acne (PAPA) Syndrome
22.1 Introduction
22.2 Epidemiology
22.3 Etiology and Pathogenesis
22.3.1 PSTPIP1-Mediated Molecular Mechanisms
22.4 Clinical Manifestations
22.4.1 Constitutional Symptoms
22.4.2 Musculoskeletal Manifestations
22.4.3 Dermatologic Manifestations
22.5 Laboratory Testing and Imaging
22.6 Diagnosis
22.7 Treatment
22.8 Outcome/Prognosis
22.9 PSTPIP1 Associated Inflammatory Diseases (PAID)
References
23: Deficiency of Adenosine Deaminase 2 (DADA2)
23.1 Introduction
23.2 Epidemiology
23.3 Etiology and Pathogenesis
23.3.1 Adenosine Deaminase 2 (ADA2) Gene and Pathogenic Variants
23.3.2 Normal Gene Product
23.3.3 Normal ADA2 Activity
23.3.4 ADA2 as a Growth Factor (ADA-Related Growth Factor, ADGF)
23.3.5 Abnormal Gene Product
23.3.6 Functional Studies of Mutant ADA2
23.3.7 ADA2 Deficiency in the Immune System
23.3.8 Effect of ADA2 Deficiency on Endothelial Development
23.3.9 Animal Model
23.4 Clinical Manifestations
23.4.1 Neurologic Manifestations
23.4.2 Dermatologic Manifestations
23.4.3 Gastrointestinal Manifestations
23.4.4 Immunologic Manifestations
23.4.5 Hematologic Manifestations
23.4.6 Other Manifestations
23.5 Laboratory and Ancillary Testing
23.6 Imaging
23.7 Diagnosis
23.8 Treatment
23.8.1 Immunosuppressive Therapy
23.8.2 Enzyme Replacement Strategies
23.9 Outcome/Prognosis
References
24: Genetic Interferonopathies
24.1 Introduction
24.2 CANDLE (PRAAS) Syndrome
24.2.1 Epidemiology
24.2.2 Etiology
24.2.3 Pathogenesis
24.2.4 Clinical Manifestations
24.2.5 Laboratory Testing
24.2.6 Imaging
24.2.7 Diagnosis
24.2.8 Treatment
24.2.9 Prognosis
24.3 Stimulator of Interferon Genes (STING)–Associated Vasculitis with Onset in Infancy (SAVI)
24.3.1 Etiology
24.3.2 Pathogenesis
24.3.3 Clinical Manifestations
24.3.4 Imaging/Laboratory Findings
24.3.5 Diagnosis
24.3.6 Treatment
24.3.7 Prognosis
24.4 Aicardi–Goutières Syndrome (AGS)
24.4.1 Etiology
24.4.2 Pathogenesis
24.4.3 Clinical Features
24.4.4 Laboratory/Imaging Findings
24.4.5 Diagnosis
24.4.6 Treatment
24.4.7 Prognosis
24.5 Other Interferonopathies
24.5.1 Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL)
24.5.2 Spondyloenchondrodysplasia with Immune Dysregulation (SPENCDI)
24.5.3 Singleton–Merten (SGMRT) Syndrome
24.5.4 USP18 Deficiency (Pseudo–TORCH Syndrome)
24.5.5 ISG15 Deficiency
24.5.6 Trichohepatoenteric Syndrome 2
24.6 Summary and Conclusions
References
25: Genetic Causes of Inflammatory Bone Disease
25.1 Introduction
25.2 Majeed Syndrome
25.2.1 Clinical Features of Majeed Syndrome
25.2.2 Genetic Basis and Pathophysiology of Majeed Syndrome
25.2.3 Treatment of Majeed Syndrome
25.3 Role of FBLIM1 in CNO
25.4 Deficiency of the IL-1 Receptor Antagonist (DIRA)
25.5 Cherubism
25.6 Pstpip2 Mutations in Murine Chronic Multifocal Osteomyelitis
25.7 Schnitzler Syndrome
25.7.1 Bone Involvement in Schnitzler Syndrome
25.8 Primary Hypertrophic Osteoarthropathy
25.9 Neonatal Onset Multisystem Inflammatory Disorder (NOMID)
25.9.1 Osseous Abnormalities in NOMID
25.10 Summary
References
26: Pustular Forms of Psoriasis Related to Autoinflammation
26.1 Introduction
26.2 Epidemiology
26.2.1 Generalised Pustular Psoriasis
26.2.2 Palmar Plantar Pustulosis
26.2.3 Acrodermatitis Continua of Hallopeau
26.3 Etiology
26.3.1 Generalised Pustular Psoriasis
26.3.2 Palmar Plantar Pustulosis
26.3.3 Acrodermatitis Continua of Hallopeau
26.4 Pathogenesis
26.4.1 Generalised Pustular Psoriasis and Acrodermatitis Continua of Hallopeau
26.4.2 Palmar Plantar Pustulosis
26.5 Clinical Manifestations
26.5.1 Generalised Pustular Psoriasis
26.5.2 Palmar Plantar Pustulosis and Acrodermatitis Continua of Hallopeau
26.6 Investigations
26.7 Diagnosis
26.8 Treatment
26.8.1 Generalised Pustular Psoriasis
26.8.2 Palmar Plantar Pustulosis and Acrodermatitis Continua of Hallopeau
26.9 Outcome/Prognosis
References
27: Hydatidiform Moles
27.1 Introduction
27.2 Epidemiology
27.3 Classification Based on Histopathology
27.4 Sporadic Hydatidiform Mole
27.4.1 Etiology
27.4.2 Genotype
27.5 Recurrent Hydatidiform Moles
27.5.1 Etiology
27.5.2 Genotype of RHM
27.5.3 Roles of NOD-Like Receptor (NLR) Family Pyrin Domain Containing 7 (NLRP7)
27.5.3.1 NLRP7 and Imprinting
27.5.3.2 NLRP7 and the Subcortical Maternal Complex
27.5.3.3 NLRP7 and Early Embryonic Development
27.5.3.4 NLRP7 and Inflammation
27.5.3.5 Synopsis of the Pathogenesis of RHM Due to Biallelic NLRP7 Mutations
27.6 Clinical Manifestations
27.7 Laboratory/Imaging/Pathology
27.7.1 Human Chorionic Gonadotropin (hCG)
27.7.2 Imaging
27.8 Treatment
27.9 Outcome
References
28: Monogenic Autoinflammatory Diseases Associated with Immunodeficiency
28.1 Introduction
28.2 Mechanisms of Coexistent Autoinflammation and Immunodeficiency
28.3 PLCγ2-Associated Antibody Deficiency and Immune Dysregulati

People also search for Textbook of autoinflammation 1st Edition:

    
inflammation textbook
    
textbook style meaning
    
textbook something meaning
    
textbook meaning
    
textbook promo code    

Tags: Philip J Hashkes, Anna Simon, Ronald M Laxer, autoinflammation