Immunogenetics: A Molecular and Clinical Overview: A Molecular Approach to Immunogenetics

Front Cover
Immunogenetics: A Molecular and Clinical Overview
Copyright Page
Contents
List of contributors
Preface
1 Origin and history of immunogenetics
	1.1 Introduction
	1.2 Immunogenetics and discovery of blood groups
	1.3 Origin of immunogenetics
	1.4 Major histocompatibility complex
	1.5 MHC class I
	1.6 MHC class II
	1.7 MHC class III
	1.8 Immunogenetics and the spectrum of immune disorders
	1.9 Autoimmune diseases
		1.9.1 Rheumatoid arthritis
		1.9.2 Psoriasis
		1.9.3 Autoimmune thyroid diseases
		1.9.4 Primary biliary cholangitis
		1.9.5 Type 1 diabetes mellitus
		1.9.6 Systemic lupus erythematosus
		1.9.7 Systemic sclerosis
	1.10 Neurological diseases
		1.10.1 Multiple sclerosis
		1.10.2 Parkinson’s disease
	1.11 Infectious diseases
		1.11.1 Tuberculosis
		1.11.2 human immunodeficiency virus
		1.11.3 HBV & HCV
	1.12 Atopic diseases
	1.13 Conclusion
	References
2 Immunogenetics: the developmental course
	2.1 Introduction
	2.2 Genetic defects associated with immune deficiency
	2.3 B cell deficiency
	2.4 T cell deficiency
	2.5 Regulatory T cell deficiency
	2.6 Phagocyte deficiency
	2.7 Defects in cytokine signaling
	2.8 Origin of immunogenetics
	2.9 History of immunogenetics
	2.10 Discovery of the major histocompatibility gene complex
	2.11 Genetic organization of the human leukocyte antigen system
	2.12 The most polymorphic human genomic region
	2.13 Role of human leukocyte antigen in creating the first physical and genetic map of the human genome
	2.14 Conclusion
	References
3 Basics of immunogenetics: application and future perspectives
	3.1 Introduction
	3.2 Application of genomic procedures to major immunodeficiency syndromes
	3.3 Biogenetic variation, functional genomics, and the immune system
	3.4 Histocompatibility complex region of humans and neurological disease
	3.5 Killer-immunoglobulin-like receptor network is a novel range of neural infection in genetics of immune system
	3.6 Human leukocyte antigen antibody screening by ELISA
	3.7 Flow cytometry and luminex techniques for the screening of human leukocyte antigen antibody
	3.8 Human leukocyte antigen antibody identification
	3.9 Polymerase chain reaction sequence-based typing
	3.10 Polymerase chain reaction-sequence specific primers or (PCR-SSP)
	3.11 Future perspectives of immunogenetics
	References
4 Immunogenetics: a tool for anthropological studies
	4.1 Introduction
	4.2 Human genetic diversity
	4.3 HLA and KIR polymorphism
	4.4 Gene frequency analysis
		4.4.1 Estimation using linkage disequilibrium
	4.5 To Test disease associations
	4.6 Conclusion
	References
5 Immunogenetic surveillance to histocompatibility
	5.1 Introduction
	5.2 Major Histocompatibility Complex genomics and human disease
	5.3 The Major Histocompatibility Complex locus and genetic susceptibility to autoimmune and infectious diseases
	5.4 Role of Major Histocompatibility Complex variants in human diseases
	5.5 Genetic restraint of the immune reaction
		5.5.1 Progression of polymorphism of human leukocyteantigens class I genetic factor
		5.5.2 Human leukocyteantigens class I supertypes and supermotifs
		5.5.3 Human leukocyteantigens typing and nomenclature
		5.5.4 Human leukocyteantigens relations with infection
		5.5.5 Immunogenetic surveillance and vaccine design
	5.6 Major Histocompatibility Complex class I chain-related molecule (MICA) antibodies in transplantation
	5.7 Immune response to MICA
	5.8 Conclusion and future perspectives
	References
6 Gestational immunogenetics: an overview
	6.1 Introduction
	6.2 Placenta as an anatomical barrier
	6.3 Placental human leucocyte antigen molecules
	6.4 Immune responses at the fetomaternal interface
		6.4.1 Decidual natural kill cells
		6.4.2 Macrophages
		6.4.3 Dendritic cells
		6.4.4 T cells
		6.4.5 Regulatory T cells or Treg cells
	6.5 Conclusion
	References
7 Gene polymorphisms and their role in autoimmunity
	7.1 Introduction
	7.2 Autoimmunity and autoimmune genes
		7.2.1 The autoimmune regulator (AIRE)
		7.2.2 FOX-P3
	7.3 Toll like receptors polymorphism and effects on autoimmunity
	7.4 Vitamin D receptor polymorphism and their role in autoimmunity
	7.5 Major histocompatibility complex gene polymorphism and autoimmunity
	7.6 Genetic polymorphism and autoimmune disorders
		7.6.1 Alzheimer’s disease
		7.6.2 Multiple sclerosis
		7.6.3 Irritable bowel syndrome
		7.6.4 Rheumatoid arthritis
	7.7 Immunogenetics and immune therapy
	7.8 Conclusion
	References
8 Role of immunogenetics polymorphisms in infectious diseases
	8.1 Introduction
	8.2 The major histocompatibility complex/human leukocyte antigen system: general structure and gene organization
	8.3 Classification of major histocompatibility complex genes
		8.3.1 Major histocompatibility complex genes class I
		8.3.2 Major histocompatibility complex genes class II
		8.3.3 Major histocompatibility complex genes class III
	8.4 Human leukocyte antigen system and the infectious diseases (function and association)
	8.5 Human leukocyte antigen system and the human immunodeficiency virus
	8.6 Human leukocyte antigen system and tuberculosis
	8.7 Human leukocyte antigen system and malaria
	8.8 Conclusion
	Acknowledgments
	Disclosure/conflict of interest
	Author’s contributions
	References
9 MicroRNAs and their role in immunogenetic-dysregulation
	9.1 Introduction
	9.2 Genetic bases of immune response
	9.3 miRNA regulating immune response
		9.3.1 Innate immune response
		9.3.2 Adaptive immune response
		9.3.3 miRNAs in T-cell immune response
	9.4 miRNA and immune tolerance
		9.4.1 Central tolerance
		9.4.2 Peripheral tolerance
	9.5 miRNA and immune checkpoint proteins
		9.5.1 PD-1
		9.5.2 CTLA-4
	9.6 Conclusion
	References
	Further reading
10 Immunogenetic causes of infertility
	10.1 Introduction
	10.2 Immunogenetic factors as a cause of infertility
		10.2.1 Role of immune system in infertility
			10.2.1.1 Human leukocyte antigen
			10.2.1.2 Reproduction immune failures
			10.2.1.3 Anti-FSH/IgM, IgA, IgG: role in infertility
			10.2.1.4 Thyroid Auto-immunity
			10.2.1.5 Mucosal immunity of genital tract
			10.2.1.6 Role of antiserum antibodies in pregnancy
			10.2.1.7 Role of seminal fluid in female immune infertility
			10.2.1.8 Role of mismatch repair
		10.2.2 Role of genetics in infertility
			10.2.2.1 Genetic causes of female infertility
				10.2.2.1.1 Polycystic ovary syndrome
				10.2.2.1.2 Endometriosis
				10.2.2.1.3 XX gonadal dysgenesis
				10.2.2.1.4 Down syndrome (trisomy 21) and turner syndrome (45, X)
			10.2.2.2 The genetic causes of male infertility
				10.2.2.2.1 Chromosome genes as a cause of Spermatogenic failure
				10.2.2.2.2 Chromosomal alterations as a cause of male infertility: translocation and inversion
				10.2.2.2.3 Leydig cell hypoplasia as a cause of male infertility
				10.2.2.2.4 Cystic fibrosis as a cause of male infertility
				10.2.2.2.5 Down syndrome and klinefelter syndrome (47, XXY)
	10.3 Conclusion
	References
11 Immunopharmacogenomics: clinical applications, challenges, and future prospects
	11.1 Introduction
	11.2 Immunopharmacogenomics in cancer therapy
	11.3 Immunopharmacogenomics in autoimmunity
	11.4 Immunopharmacogenomics in food allergy
	11.5 Immunopharmacogenomics and adverse drug reactions
	11.6 Organ transplant rejection and immunopharmacogenomics
	11.7 Challenges of immunopharmacogenomics
		11.7.1 Selection and monitoring of patients
		11.7.2 Efficacy is generally unpredictable
		11.7.3 Check-point based immunotherapy
		11.7.4 Lack of target specificity
		11.7.5 Mutational landscape
		11.7.6 Development resistance
		11.7.7 Gut microbiota
		11.7.8 Immunotherapy drug are expensive
	11.8 Future direction
		11.8.1 Identification of additional biomarkers
		11.8.2 Overcoming resistance to immunotherapy
		11.8.3 Administration of immunotherapy
		11.8.4 Personalized approach to overcome molecular and physical barriers
		11.8.5 Accurate prediction of immunotherapy prediction
		11.8.6 Gut microbiome
		11.8.7 Application of nanotechnology
	11.9 Conclusion
	References
12 Immunopharmacology of Alzheimer’s disease
	12.1 Introduction
	12.2 Innate immunity and Alzheimer’s disease
	12.3 Alzheimer’s disease and interferons
	12.4 Alzheimer’s disease and glial cells
	12.5 Alzheimer’s dementia and microglia
	12.6 Astrocytes and Alzheimer’s disease
	12.7 Alzheimer’s disease and oligodendrocytes
	12.8 Alzheimer’s dementia and glia barriers
	12.9 Alzheimer’s disease and current immune-related therapies
	12.10 Conclusion
	References
13 miRNAs: the genetic regulators of immunity
	13.1 Introduction
	13.2 MicroRNA biogenesis
	13.3 Immuno-miRNAs: vital immune regulators
		13.3.1 miR-23~27~24 cluster
		13.3.2 miR-146a/-155 axis
		13.3.3 miR-17~92 cluster
		13.3.4 miR-223
		13.3.5 miR-181
	13.4 miRNA-mediated regulation of T cell differentiation and function
		13.4.1 TH1 cellular differentiation and function
		13.4.2 TH2 cellular differentiation and function
		13.4.3 TH17 cellular differentiation and function
		13.4.4 Regulatory T cellular differentiation and function
	13.5 Conclusion
	References
	Further reading
14 Immunopharmacogenomics: a hope in the treatment of carcinoma
	14.1 Introduction
	14.2 Cancer immunogenomics
	14.3 Cancer genomic biomarkers
	14.4 Cancer antigens and neoantigens
	14.5 Cancer immunotherapy
		14.5.1 Immune checkpoint inhibition
			14.5.1.1 PD-1/PDL-1 checkpoint inhibition
			14.5.1.2 CTLA-4 checkpoint inhibition
				14.5.1.2.1 CAR- T cell therapy
				14.5.1.2.2 Cancer vaccines
	14.6 Personalized cancer therapies
	14.7 Conclusion
	References
15 Immunopharmaco-genomics: future of clinical medicine
	15.1 Introduction
	15.2 Adverse drug reactions
		15.2.1 Immune-mediated adverse drug reactions
			15.2.1.1 Classification of immune-mediated adverse drug reactions
			15.2.1.2 Stevens-Johnson syndrome/toxic epidermal necrosis
			15.2.1.3 Drug reaction with eosinophilia and systemic symptoms
			15.2.1.4 Other immune-mediated adverse drug reactions
	15.3 Genomics approaches to illuminate the complexity of drug response
	15.4 Challenges for genetic association studies of IM-ADRs
	15.5 Approaches to determine IM-ADR mechanisms
	15.6 Role of immunopharmacogenomics in preventing IM-ADRs
	15.7 Complexities of the human immune system
	15.8 Applications of T cell receptors/B cell receptors sequencing
		15.8.1 T cell receptor and B cell receptor sequencing with next-generation sequencers
		15.8.2 Identifying neoantigen-specific T cell receptors for cancer immunotherapy
		15.8.3 Describing T cell changes during immunotherapy
		15.8.4 Characterizing T cell changes during nonimmune targeted cancer therapy
		15.8.5 T cell receptors/B cell receptor sequencing in other diseases
			15.8.5.1 Pathogenesis of autoimmune diseases
			15.8.5.2 Pathogenesis of food allergy
			15.8.5.3 Pathogenesis of graft rejection or graft-vs-host disease after hematopoietic cell transplantation
	15.9 Future perspectives of immunopharmacogenomics
	References
Index
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