Download or read book Genetic and Functional Approaches to Understanding Autoimmune and Inflammatory Pathologies written by Abbas Raza and published by . This book was released on 2020 with total page 596 pages. Available in PDF, EPUB and Kindle. Book excerpt: Our understanding of genetic predisposition to inflammatory and autoimmune diseases has been enhanced by large scale quantitative trait loci (QTL) linkage mapping and genome-wide association studies (GWAS). However, the resolution and interpretation of QTL linkage mapping or GWAS findings are limited. In this work, we complement genetic predictions for several human diseases including multiple sclerosis (MS) and systemic capillary leakage syndrome (SCLS) with genetic and functional data in model organisms to associate genes with phenotypes and diseases. Focusing on MS, an autoimmune inflammatory disease of the central nervous system (CNS), we experimentally tested the effect of three of the GWAS candidate genes (SLAMF1, SLAMF2 and SLAMF7) in the experimental autoimmune encephalomyelitis (EAE) mouse model and found a male-specific locus distal to these loci regulating CNS autoimmune disease. Functional data in mouse suggests this male-specific locus modulates the frequency of immune cells including CD11b+, TCR[alpha beta]+CD4+Foxp3+, and TCR[alpha beta]+CD8+IL-17+ cells during EAE disease. Orchiectomy experiments demonstrate that this male specific phenotype is dependent on testis but not testosterone (T) or 5[alpha]-dihydrotestosterone (DHT). Using a bioinformatic approach, we identified SLAMF8 and SLAMF9 along with other differentially expressed genes in linkage with MS-GWAS predictions whose expression is testis-dependent, but not directly regulated by T or DHT, as potential positional candidates regulating CNS autoimmune disease. Further refinement of this locus is required to identify the causal gene(s) that may be targeted for prevention and/or treatment of MS in men. Using SCLS, an extremely rare disorder of unknown etiology characterized by recurrent episodes of vascular leakage, we identified and modeled this disease in an inbred mouse strain, SJL, using susceptibility to histamine- and infection-triggered vascular leak as the major phenotypic readout. This trait "Histamine hypersensitivity" (Histh/Histh) was mapped to a region on Chr 6. Remarkably, Histh is syntenic to the genomic locus most strongly associated with SCLS in humans (3p25.3). Subsequent studies found that the Histh locus is not unique to SJL but additional mouse strains also exhibit Histh phenotype. Considering GWAS studies in SCLS are limited by the small number of patients, we utilized interval-specific SNP-based association testing among Histh phenotyped mouse strains to predict Histh candidates. Furthermore, to dissect the complexity of Histh QTL, we developed network-based functional prediction methods to rank genes in this locus by predicting functional association with multiple Histh-related processes. The top-ranked genes include Cxcl12, Ret, Cacna1c, and Cntn3, all of which have strong functional associations and are proximal to SNPs segregating with Histh. Lastly, we utilized the power of integrating genetic and functional approaches to understand susceptibility to Bordetella pertussis and pertussis toxin (PTX) induced histamine sensitization (Bphs/Bphs), a sub-phenotype with an established role in autoimmunity. Congenic mapping in mice had earlier linked Bphs to histamine H1 receptor gene (Hrh1/H1R) and demonstrated that H1R differs at three amino acid residues in Bphs-susceptible and -resistant mice. Our subsequent studies identified eight inbred mouse strains that were susceptible to Bphs despite carrying a resistant H1R allele. Genetic analyses mapped the locus complementing Bphs to mouse Chr 6, in linkage disequilibrium with Hrh1; we have designated this Bphs-enhancer (Bphse). Similar to the approaches used for Histh, we utilized interval-specific SNP based association testing and network-based functional enrichment to predict nine candidate loci for Bphse including Atp2b2, Atg7, Pparg, Syn2, Ift122, Raf1, Mkrn2, Timp4 and Gt(ROSA)26Sor. Overall, these studies demonstrate the power of integrating genetic and functional methods in humans and animal models to predict highly plausible loci underlying QTL/GWAS data.

Download or read book Janeway s Immunobiology written by Kenneth Murphy and published by Garland Science. This book was released on 2010-06-22 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: The Janeway's Immunobiology CD-ROM, Immunobiology Interactive, is included with each book, and can be purchased separately. It contains animations and videos with voiceover narration, as well as the figures from the text for presentation purposes.

Download or read book B Cell Receptor Signaling written by Tomohiro Kurosaki and published by Springer. This book was released on 2015-12-26 with total page 231 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume details our current understanding of the architecture and signaling capabilities of the B cell antigen receptor (BCR) in health and disease. The first chapters review new insights into the assembly of BCR components and their organization on the cell surface. Subsequent contributions focus on the molecular interactions that connect the BCR with major intracellular signaling pathways such as Ca2+ mobilization, membrane phospholipid metabolism, nuclear translocation of NF-kB or the activation of Bruton’s Tyrosine Kinase and MAP kinases. These elements orchestrate cytoplasmic and nuclear responses as well as cytoskeleton dynamics for antigen internalization. Furthermore, a key mechanism of how B cells remember their cognate antigen is discussed in detail. Altogether, the discoveries presented provide a better understanding of B cell biology and help to explain some B cell-mediated pathogenicities, like autoimmune phenomena or the formation of B cell tumors, while also paving the way for eventually combating these diseases.

Download or read book Idiotypes in Medicine Autoimmunity Infection and Cancer written by R.C. Kennedy and published by Elsevier. This book was released on 1997-11-19 with total page 557 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the most comprehensive review of the idiotypic network available. All the current knowledge of idiotypes of the various antibodies is incorporated in this volume. The pathogenic role of idiotypes in autoimmunity and cancer is reviewed in depth. The therapeutic part focusses on harnessing anti-idiotypes for treating autoimmunological disorders, and on the employment of idiotypes for vaccines in cancer and infectious diseases, as well as explaining the manipulation of the idiotypic network in autoimmunity and cancer idiotypes and vaccines.

Download or read book Textbook of Autoinflammation written by Philip J. Hashkes and published by Springer. This book was released on 2019-02-13 with total page 820 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Genome Wide Association Studies written by Tatsuhiko Tsunoda and published by Springer Nature. This book was released on 2019-10-31 with total page 209 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book examines the utility of genome-wide association studies (GWAS) in the era of next-generation sequencing and big data, identifies limitations and potential means of overcoming them, and looks to the future of GWAS and what may lay beyond. GWAS are among the most powerful tools for elucidating the genetic aspects of human and disease diversity. In Genome-Wide Association Studies, experts in the field explore in depth the impacts of GWAS on genomic research into a variety of common diseases, including cardiovascular, autoimmune, diabetic, cancer, and infectious diseases. The book will equip readers with a sound understanding both of the types of disease and phenotypes that are suited for GWAS and of the ways in which a road map resulting from GWAS can lead to the realization of personalized/precision medicine: functional analysis, drug seeds, pathway analysis, disease mechanism, risk prediction, and diagnosis.

Download or read book The Autoimmune Diseases written by Noel R. Rose and published by Academic Press. This book was released on 2019-10-15 with total page 1532 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Autoimmune Diseases, Sixth Edition, emphasizes the "3 P’s" of 21st Century medicine: precision, prediction and prevention. Topics cover the modern systems approach to biology that involves large amounts of personalized, ongoing physiologic data ("omics") coupled with advanced methods of analysis, new tests of genetic engineering, such as CRISPR, auto inflammatory diseases, autoimmune responses to tumor immunotherapy, and information on normal immune response and disorders. Each of the major autoimmune disorders is discussed by researchers and clinical investigators experienced in dealing with patients. Chapters emphasize the immunologic basis of the disease as well as the use of immunologic diagnostic methods and treatments. The book also covers several cross-cutting issues related to the recognition and treatment of autoimmune diseases, including chapters on the measurement of autoantibodies and T cells, the use of biomarkers as early predictors of disease, and new methods of treatment. Gives a thorough and important overview on the entire field, framing individual disease chapters with information that compares and contrasts each disorder and its therapy Provides thorough, up-to-date information on specific diseases, along with clinical applications in an easily found reference for clinicians and researchers interested in certain diseases Keeps readers abreast of current trends and emerging areas in the field Ensures that content is not only up-to-date, but applicable and relevant Includes new, updated chapters that emphasize hot topics in the field, e.g., research on auto inflammatory diseases and autoimmune responses following cancer immunotherapy

Download or read book Approaches to Gene Mapping in Complex Human Diseases written by Jonathan L. Haines and published by Wiley-Liss. This book was released on 1998-10-08 with total page 472 pages. Available in PDF, EPUB and Kindle. Book excerpt: Overview of mapping common and genetically complex human disease traits (J. L. Haines, M. A. Pericak-Vance). Basic concepts in genetics (M. C. Speer). Defining disease phenotypes (A. S. Aylsworth). Basic concepts in linkage analysis ( M. A. Pericak-Vance). Determining the genetic component of a disease (L. A. Farrer, L. A. Cupples). Patient and family participation in genetic research studies (P. E. Cohen, C. Wolpert). Sample size and power (M. C. Speer). The collection of biological samples for DNA analysis (J. M. Vance). Methods of genotyping (J. M. Vance, K. B. Othmane). Database design for gene mapping studies (C. Haynes, C. Blach). Genomic screening (J. L. Haines). Lod score analysis (J. Xu, D. A. Meyers, M. A. Pericak-Vance). Sib pair analysis (D. E. Goldgar). Affected relative pair analysis (J. L. Haines). Linkage disequilibrium and allelic association (M. A. Pericak-Vance). Using public databases (J. L. Haines). Laboratory approaches toward gene identification (D. A. Marchuk). Examining complex genetic interactions (J. M. Schildkraut). Glossary. Appendix: useful websites for genetic analysis. Index.

Download or read book Immunogenetics A Molecular and Clinical Overview written by Muneeb U. Rehman and published by Academic Press. This book was released on 2021-11-30 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Molecular Approach to Immunogenetics, Immunogenetics: A Molecular and Clinical Overview, Volume One provides readers with an exclusive, updated overview on the scientific knowledge, achievements and findings in the field of immunogenetics. The book presents readily available, updated information on the molecular and clinical aspects of immunogenetics, from origin and development to clinical applications and future prospects. The breadth of information goes from basics to developments, clinical applications and future prospects. The book's most attractive attribute is its academic and clinical amalgamation that covers both the theoretical and practical aspects of immunogenetics. An additional feature of the book is a special chapter on viral genetics that covers COVID-19. Above all, the book contains chapters that discuss immunogenetics in relation to pharmaco-genomics and immune-toxicology. Contains exclusive information about research on immunogenetics from around the globe Includes minute and recent details that will be the prerequisite requirement for any researcher who wants to work on immunogenetics and its applications Comes fully-equipped with pictures, illustrations and tables that deliver information in a meticulous manner

Download or read book The Autoimmune Brain written by David S. Younger and published by Rowman & Littlefield. This book was released on 2019-11-10 with total page 289 pages. Available in PDF, EPUB and Kindle. Book excerpt: There are millions of people who experience issues related to brain health—depression, attention issues, anxiety, forgetfulness, fatigue, and even chronic pain—yet can’t figure out what’s causing their problems and can’t find any relief. They may have seen a myriad of doctors, many of whom do not take their complaints seriously, or worse, turn to the easy, often inappropriate fix of antidepressants or anti-anxiety medications. Traditional medications, supplements, or other therapies haven’t worked. No matter what their age—from children to teens or seniors—people and their loved ones are frustrated, scared, and confused by their continued poor health. Countless others display severe psychiatric symptoms that seem to come out of nowhere, ranging from tics, obsessive-compulsive behaviors and anxiety, to depression, bipolar-like mood swings, and even borderline personality disorder and suicidal ideas. Sometimes, the people affected are the only ones that notices a change to the way they think or feel, and they suffer in silence. Or, they reach out to try to get help, and are all too frequently misdiagnosed. David Younger, a world-renowned physician, provides relief to these patients and their families. His diagnostic techniques and treatment protocols will help readers identify the true cause of their symptoms and put them on a clear path to healing so they no longer feel unbalanced, out of control, forgetful, and exhausted. The Autoimmune Brain connects common brain health symptoms to the changes in the immune system, and particularly bacterial, viral, and parasitic infections. Younger explains his groundbreaking research and adds a new component: how traumatic stress (whether physical or emotional) and genetics affects this same triad as inextricable factors in initiating disease and brain health symptoms. In fact, a change in personality, behavior, coping style, and one’s emotional state may be the first clue that there is a health problem brewing somewhere else in the body. Readers will find new answers to troubling conditions, including: Alzheimer’s disease; Anxiety; Arthritis; Autism; Autonomic disturbances; Bacterial and viral infections; Bipolar Disorder; Cancer; Celiac disease and gluten intolerances; Chronic Fatigue Syndrome (now referred to as Systemic Exertion Intolerance Disease); Chronic Pain; Dementia; Depression; Endocrine Disorders; Immune modulatory therapy using IVIg; Lyme disease and co-infections; Mast cell activation syndrome; Medical cannabis; Obsessive Compulsive Disorder; Orthostatic hypotension; Peripheral Neuropathy; Porphyria; Post-Traumatic Stress Disorder; and Postural orthostatic tachycardia.

Download or read book An Epidemic of Absence written by Moises Velasquez-Manoff and published by Simon and Schuster. This book was released on 2013-09-17 with total page 416 pages. Available in PDF, EPUB and Kindle. Book excerpt: A controversial, revisionist approach to autoimmune and allergic disorders considers the perspective that the human immune system has been disabled by twentieth-century hygiene and medical practices.

Download or read book Autoimmune Neurology written by and published by Elsevier. This book was released on 2016-03-11 with total page 568 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autoimmune Neurology presents the latest information on autoimmune neurologic disease, the immune response to the body where organs run wild, causing the immune system to attack itself. Autoimmunity is a main element in numerous nervous system diseases and can target any structure within the central or peripheral nervous system. Over the past 20 years, significant advances in our understanding of the pathophysiology of autoimmune disorders, including the use of biomarkers has led to new diagnosis and treatment options. Neurologic conditions associated with autoimmune reactions include dementia, neuromuscular disease, epilepsy, sleep disorders, diabetes, and other common neurologic disorders and disease. This current tutorial-reference will be a must-have title for clinical neurologists, research neurologists, neuroscientists, and any medical professional working with autoimmune disease and disorders. Includes comprehensive coverage of autoimmune neurology Details the latest techniques for the study, diagnosis, and treatment of diseases and disorders, including dementia, neuromuscular disease, epilepsy, and sleep disorders Presents a focused reference for clinical practitioners and the clinical neurology and neurology research communities

Download or read book Gene Therapy of Autoimmune Disease written by Gerald J. Prud'homme and published by Springer. This book was released on 2005-07-13 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autoimmune diseases are diverse and responsible for considerable morbidity. Their etiology remains largely unknown, and current therapy with anti-inflammatory drugs is prone to adverse effects, and rarely curative. New therapies with anti-cytokine antibodies or receptors are promising, but require frequent administration of expensive protein drugs. Gene Therapy of Autoimmune Diseases comprehensively reviews research in gene therapy for autoimmune diseases with viral or non-viral vectors. Gene therapy offers the possibility of long-term, continuous delivery of a wide variety of immunosuppressive, anti-inflammatory, or tolerance-inducing agents. Moreover, highly specific genetically modified cells can be produced. This book discusses the most promising avenues in this exciting new field.

Download or read book The Epigenetics of Autoimmune Diseases written by Moncef Zouali and published by John Wiley & Sons. This book was released on 2009-04-01 with total page 472 pages. Available in PDF, EPUB and Kindle. Book excerpt: The role of epigenetic mechanisms in autoimmune disease is only now starting to become clear. Understanding these mechanisms, their effect on cellular function and the role of environmental factors is vital to determining how to manage these often debilitating and fatal diseases. Drawing on the research of leading experts, this book provides a valuable insight into this important new area of autoimmunity research and a clear, up-to-date view on the major advances in the field. Specific coverage includes: How highly developed epigenetic mechanisms are involved in several aspects of normal immune regulation, in addition to maintaining immune tolerance to self-determinants. Specific epigenetic aspects of human autoimmune diseases, including multiple sclerosis, systemic lupus erythematosus, rheumatoid arthritis, systemic sclerosis, autoimmune diabetes, thyroid autoimmunity, inflammatory bowel disease and autoimmune hepatitis. How understanding epigenetic mechanisms can lead to therapeutic strategies based on manipulation of this previously unexploited facet of immune regulation. Discussion of the novel approaches that are being investigated to prevent or treat autoimmune diseases. This book is an essential resource for those actively involved in the field. It is also of interest to basic researchers interested in understanding the origin of autoimmunity and clinical specialists interested in gaining in-depth understanding of the pathogenesis of autoimmune diseases and their treatment.

Download or read book Polymyositis and Dermatomyositis written by Marinos C. Dalakas and published by Butterworth-Heinemann. This book was released on 2013-10-22 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: Polymyositis and Dermatomyositis provides extensive information regarding Polymyositis and Dermatomyositis (PM/DM), which is described as a heterogeneous disease complex. This book is divided into four sections: Part I (Clinical Features) covers the classification of PM/DM, details of the clinical presentation, and the disease's association with the other connective tissue disorders and malignancies. Part II (Etiology and Mechanisms) covers advances in the immunopathology and viral etiology of PM/DM along with a frequently recognized entity: inclusion body myositis. Part III (Diagnosis and Treatment) covers the histologic, muscle enzyme histochemical, electron microscopic, and resin histology features of PM/DM along with those electromyographic features that could help make a more accurate diagnosis. Part IV (Overview) summarizes the issues that may not have been clear and highlights differing and unsettled views or present available data. This text is directed to clinicians in private practice or in academic institutions concerned with PM/DM patients, including neurologists, rheumatologists, pediatricians, dermatologists, physiatrists, and neuromuscular investigators. This book is intended as well for neuromuscular pathologists who interpret muscle biopsy specimens and electromyographers who perform EMG studies to help determine the clinical diagnosis. Researchers in immunology and immunopathology of neuromuscular diseases will find discussions in this book invaluable.

Download or read book The Autoimmune Solution written by Amy Myers, M.D. and published by Harper Collins. This book was released on 2015-01-27 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over 90 percent of the population suffers from inflammation or an autoimmune disorder. Until now, conventional medicine has said there is no cure. Minor irritations like rashes and runny noses are ignored, while chronic and debilitating diseases like Crohn's and rheumatoid arthritis are handled with a cocktail of toxic treatments that fail to address their root cause. But it doesn't have to be this way. In The Autoimmune Solution, Dr. Amy Myers, a renowned leader in functional medicine, offers her medically proven approach to prevent a wide range of inflammatory-related symptoms and diseases, including allergies, obesity, asthma, cardiovascular disease, fibromyalgia, lupus, IBS, chronic headaches, and Hashimoto's thyroiditis.

Download or read book Functional Somatic Symptoms in Children and Adolescents written by Kasia Kozlowska and published by Springer Nature. This book was released on 2020-09-30 with total page 397 pages. Available in PDF, EPUB and Kindle. Book excerpt: This open access book sets out the stress-system model for functional somatic symptoms in children and adolescents. The book begins by exploring the initial encounter between the paediatrician, child, and family, moves through the assessment process, including the formulation and the treatment contract, and then describes the various forms of treatment that are designed to settle the child’s dysregulated stress system. This approach both provides a new understanding of how such symptoms emerge – typically, through a history of recurrent or chronic stress, either physical or psychological – and points the way to effective assessment, management, and treatment that put the child (and family) back on the road to health and well-being.