inborn errors of immunity

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Inborn Errors of Immunity
Author : Asghar Aghamohammadi,Hassan Abolhassani,Nima Rezaei,Reza Yazdani
Publisher : Academic Press
Release Date : 2021-02-01
ISBN 10 : 0128231890
Pages : 394 pages
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Awareness among clinicians about PIDs, which consist of more than 400 different entities, plays an important role in ensuring that patients receive a timely diagnosis. Furthermore, clinicians who are educated about PIDs can give their patients access to optimal management of their condition, thus helping the patient achieve a better quality-of-life and long-term prognosis. Inborn Errors of Immunity: A Practical Guide provides the most up-to-date information for busy students, nurses, clinical residents, practicing physicians, and even basic researchers. Readers will benefit from a well-structured breakdown of complicated PID diseases, including approaches to their clinical signs/symptoms and immunologic/laboratory findings. Presents valuable contribution of more than 40 expert chapter authors, from top centers spanning five continents, each in a specific PID field • Covers various aspects of PID using updated clinical guidelines and standard stepwise pipelines • Focuses on the latest developments in the molecular diagnosis and pathogenesis of diseases, with easy explanation and schematic representation of defective signaling pathways • Includes dedicated sections for clinical features and immunological tests with carefully-curated figures of PID manifestations, imaging, and histological/pathological illustrations to create the first PID medial-color atlas • Summarizes the updated conventional and specific treatments and follow-up notes for different PID diseases

Inborn Errors of Immunity
Author : Asghar Aghamohammadi,Hassan Abolhassani,Nima Rezaei,Reza Yazdani
Publisher : Academic Press
Release Date : 2021-02-15
ISBN 10 : 0128210281
Pages : 405 pages
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Awareness among clinicians about PIDs, which consist of more than 400 different entities, plays an important role in ensuring that patients receive a timely diagnosis. Furthermore, clinicians who are educated about PIDs can give their patients access to optimal management of their condition, thus helping the patient achieve a better quality-of-life and long-term prognosis. Inborn Errors of Immunity: A Practical Guide provides the most up-to-date information for busy students, nurses, clinical residents, practicing physicians, and even basic researchers. Readers will benefit from a well-structured breakdown of complicated PID diseases, including approaches to their clinical signs/symptoms and immunologic/laboratory findings. Presents valuable contribution of more than 40 expert chapter authors, from top centers spanning five continents, each in a specific PID field . Covers various aspects of PID using updated clinical guidelines and standard stepwise pipelines . Focuses on the latest developments in the molecular diagnosis and pathogenesis of diseases, with easy explanation and schematic representation of defective signaling pathways . Includes dedicated sections for clinical features and immunological tests with carefully-curated figures of PID manifestations, imaging, and histological/pathological illustrations to create the first PID medial-color atlas . Summarizes the updated conventional and specific treatments and follow-up notes for different PID diseases

Stiehm's Immune Deficiencies
Author : Kathleen E Sullivan,E. Richard Stiehm
Publisher : Academic Press
Release Date : 2014-08-08
ISBN 10 : 0124058604
Pages : 1156 pages
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Stiehm's Immune Deficiencies focuses on immunodeficiencies in children and adults. This book covers the many advances in the study of immunodeficiency. Stiehm's Immune Deficiencies includes 62 chapters covering topics such as newly described syndromes, genetic diagnosis, molecular abnormalities, newborn screening, and current therapies. Provides practical guidance to practitioners dealing with the day-to-day issues of diagnosis and management of immune deficient patients Covers both clinical management and scientific advances in one place Includes newly described disorders in various periodic updates to maintain the breadth of the reference

Stiehm's Immune Deficiencies
Author : Kathleen E. Sullivan,E. Richard Stiehm
Publisher : Academic Press
Release Date : 2020-05-23
ISBN 10 : 0128172959
Pages : 1332 pages
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Stiehm’s Immune Deficiencies: Inborn Errors in Immunity, Second Edition, is ideal for physicians and other caregivers who specialize in immunology, allergies, infectious diseases and pulmonary medicine. It provides a validated source of information for care delivery to patients, covering approaches to diagnosis that use both new genetic information and emphasize screening strategies. Management has changed dramatically over the past five years, so approaches to infection and autoimmunity are emphasized in an effort to improve outcomes and disseminate new information on the uses of targeted therapy. Covers immune deficiencies that are presented in a practical way, providing helpful information for active clinicians Fills an increasingly deep gap in the information available to clinicians Presents both clinical management and scientific advances for immune deficiencies Provides a primary resource for physicians in the field of immunodeficiencies Includes website access to a range of videos relevant to the topics discussed

Identifying Novel Inborn Errors of the Immune System
Author : Elisabeth Salzer
Publisher : Springer
Release Date : 2017-01-03
ISBN 10 : 3658167963
Pages : 76 pages
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In her study Elisabeth Salzer describes three novel monogenic diseases. For CD27 deficiency Elisabeth Salzer describes a large cohort of patients. Although all patients shared the same causative missense mutation, they displayed diverse clinical presentations. In another patient she was able to identify a mutation in PRKCD resulting in a primary immunodeficiency with severe Lupus-like autoimmunity. The patient exhibited increased mRNA levels of IL6. Therefore, treatment with Tocilizumab, a humanized anti-IL-6 receptor monoclonal antibody was suggested. In a family with a history of deaths due to inflammatory bowel disease she identified a missense mutation in IL21. She produced wild type and mutated IL-21 protein and demonstrated a loss of function phenotype. As IL-21 is in clinical trials, she proposed a potentially curative treatment option. These discoveries contributed to the understanding of the multifaceted regulatory mechanisms of the immune system and highlighted essential players in these complex signaling networks.

The EBMT Handbook
Author : Enric Carreras,Carlo Dufour,Mohamad Mohty,Nicolaus Kröger
Publisher : Springer
Release Date : 2018-12-12
ISBN 10 : 3030022781
Pages : 702 pages
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This Open Access edition of the European Society for Blood and Marrow Transplantation (EBMT) handbook addresses the latest developments and innovations in hematopoietic stem cell transplantation and cellular therapy. Consisting of 93 chapters, it has been written by 175 leading experts in the field. Discussing all types of stem cell and bone marrow transplantation, including haplo-identical stem cell and cord blood transplantation, it also covers the indications for transplantation, the management of early and late complications as well as the new and rapidly evolving field of cellular therapies. This book provides an unparalleled description of current practices to enhance readers’ knowledge and practice skills.

The Relationship Between Cancer Predisposition and Primary Immunodeficiency
Author : Fabian Hauck,Andrew R. Gennery,Markus G. Seidel
Publisher : Frontiers Media SA
Release Date : 2019-11-21
ISBN 10 : 2889631729
Pages : 214 pages
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Primary Immunodeficiency Diseases
Author : Hans D. Ochs,C. I. Edvard Smith,Jennifer Puck
Publisher : Oxford University Press, USA
Release Date : 2007
ISBN 10 : 019514774X
Pages : 726 pages
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The second edition of Primary Immunodeficiency Diseases presents discussions of gene identification, mutation detection, and clinical and research applications for over 100 genetic immune disorders--disorders featuring an increased susceptibility to infections and, in certain conditions, an icreased rate of malignancies and autoimmune disorders. Since the publication of the first edition, a flurry of new disease entities has been defined and new treatment regimens have been introduced, the most spectacular being successful treatment by gene therapy for two genotypes of combined immunodeficiency. The first edition marked a historic turning point in the field of immunodeficiencies, demonstrating that many of the disorders of the immune systam could be understood at a molecular level. This new edition can proudly document the tremendous pace of progress in dissecting the complex immunologic networks responsible for protecting individuals from these disorders.

Neuroimmune Diseases
Author : Hiroshi Mitoma,Mario Manto
Publisher : Springer
Release Date : 2019-08-13
ISBN 10 : 3030195155
Pages : 827 pages
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A translational overview of neuroimmune diseases for neuroscientists and clinicians that clarifies the pathological mechanisms underlying neuroimmune diseases and builds a comprehensive bridge between the latest research findings and their clinical implications in daily practice. The material is presented in two steps. The first section comprises a review of the pathogenic actions of immune cells in brain diseases. Here the authors discuss the mechanisms through which immune cells disrupt the functions of nerve cells. The second section explores the ways in which the brain becomes dysfunctional due to impaired nerve cell function. Based on pathogenesis, diagnostic and therapeutic strategies are discussed for each clinical category. The book will be invaluable for use in clinical practice of neuroimmune diseases

Amino Acids
Author : Guoyao Wu
Publisher : CRC Press
Release Date : 2013-04-22
ISBN 10 : 1439861900
Pages : 503 pages
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Amino acid biochemistry and nutrition spans a broad range of fields including biochemistry, metabolism, physiology, immunology, reproduction, pathology, and cell biology. In the last half-century, there have been many conceptual and technical advancements, from analysis of amino acids by high-performance liquid chromatography and mass spectrometry

Inborn Errors of Immunity and Phagocytosis
Author : F. Güttler,J.W.T. Seakins,R. Angus Harkness
Publisher : Springer Science & Business Media
Release Date : 2012-12-06
ISBN 10 : 9401161976
Pages : 391 pages
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The rapid growth of immunology has greatly increased our understanding of disease; this growth has also generated a subject which at times appears separated from some of the basic medical sciences. Recent studies in the areas of purine metabolism and of polymorphonuclear neutrophil phago cyte function have, however, linked immunology and clinical medicine with biochemistry. The precise defects of the inborn errors of metabolism have now provided good evidence for the importance of purine metabolism specifically the enzymes adenosine deaminase and nucleoside phosphorylase in lymphocyte function. In view of this and the steady advance of clinical and biochemical investigation of the polymorphonuclear neutrophil phago cyte, it appeared timely to review the inborn errors of immunity and phagocytosis at the fifteenth annual symposium of the Society for the Study of Inborn Errors of Metabolism at Elsinore, Denmark on September II-14th, I~77. The papers presented at that meeting form the basis of this volume which brings together contributions from immunologists, biochemists and clinicians. This interdisciplinary communication should be helpful to those concerned with immune function in their patients or in the laboratory. The book is divided into four sections, One: defects of cell-mediated immunity, Two: enzyme defects and immunodeficiency, Three: disorders of non-specific immunity and Four: screening for immunodeficiency. Section One contains two reviews, one on immunodeficiency from Robert Good's group in New York and another on the genetics of the immune system from Arne Svejgaard of Copenhagen.

Primary Immunodeficiency Disorders
Author : Amos Etzioni,Hans D. Ochs
Publisher : Academic Press
Release Date : 2014-09-13
ISBN 10 : 0124115543
Pages : 376 pages
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Primary Immunodeficiency Disorders: A Historic and Scientific Perspective provides a complete historical context that is crucial for students and researchers concerned with primary immunodeficiency. When researchers have a poor understanding of the way we arrived where we are in research, they can miss important points about a disease, or miss out on how to approach new diseases. This historical knowledge of research can assist greatly by showing how it was done in the past, demonstrating the successes and failures, so that it can be done better in the future. This book provides an understanding of the process going from clinical problem to lab and back to the clinic, based on historical experiences. Its chapters proceed from the discovery of the T and B cell lineages through the first BMT for immunodeficiency disorder; lab investigation and gene therapy for PID; the discovery of the gene for AT and its function; understanding cytokine defects; and many other stops along the way. Facilitates communication among physicians and other investigators concerned with immunological and inflammatory diseases Summarizes for the first time all the known facts from 60 years of primary immunodeficiency research, and teaches how an important field in medicine was established Provides stimulating discussions on developing new medical therapies Highlights the importance of studying humans to understand mechanisms of disease that affect humans