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The number of diagnosed cases of primary immunodeficiency diseases (PIDs) – a group of inborn disorders of the immune system – is growing rapidly, but misdiagnosis or late diagnosis still occurs in a significant number of patients, with serious consequences. This is the second edition of a practical reference textbook on PIDs that has been widely welcomed by scientists and clinicians from around the world. The new edition has been extensively revised to reflect advances in knowledge and includes various PIDs not previously covered. For each disease, information is provided on definition, etiology, clinical manifestations, diagnosis, and management. This book will represent an ideal resource for specialists when engaging in diagnosis, clinical decision-making, and treatment planning. It will also prove invaluable for doctors in training and other physicians and nurses who wish to learn more about PIDs.
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.
This book provides a broad clinical overview of primary and secondary immunodeficiencies nested in clinical cases that will help the reader understand the approach to evaluation, diagnosis, and management of these challenging cases. Chapters begin with a comprehensive overview of immunodeficiencies to ground the reader in practical knowledge of the field and these complex conditions. Chapters cover B lymphocyte immunodeficiency, T cell immunodeficiency, immune dysregulation syndromes, and innate immune defects. They discuss a range of treatment options including gene therapy or bone marrow transplant. The book continues with a discussion on secondary immunodeficiencies and their treatment. Each chapter was written by authors with expertise related to different immunodeficiency disorders and provide a succinct overview of pathomechanisms, diagnosis, and treatment of a specific condition. Primary and Secondary Immunodeficiency will be an excellent resource for practicing allergists, hematologists, clinical immunologists, fellows, residents, and other clinicians who work with immunodeficiency patients.
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 therapiesHighlights the importance of studying humans to understand mechanisms of disease that affect humans
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
Biochemical and Molecular Basis of Pediatric Disease, Fifth Edition has been a well-respected reference in the field for decades. This revision continues the strong focus on understanding the pathogenesis of pediatric disease, emphasizing not only the important role of the clinical laboratory in defining parameters that change with the disease process, but also the molecular basis of many pediatric diseases. - Provides a fully-updated resource with more color illustrations - Focuses on the biochemical and molecular basis of disease as well as the analytical techniques - Defines important differences in the pathophysiology of diseases, comparing childhood with adult
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
This best-selling resource has a worldwide reputation as the leader in its field. Focusing on human immunology and biology, while also reporting on scientific experimentation and advancement, it provides comprehensive coverage of state-of-the-art basic science as well as authoritative guidance on the practical aspects of day-to-day diagnosis and management. This new edition includes 700 full-color illustrations and a new, more accessible format to make finding information a snap for the busy practitioner. And this Expert Consult Edition offers online access to the complete contents of the 2-volume set, fully searchable, and much more. Includes a glossary of allergy and immunology for quick and easy reference. Contains keypoints and clinical pearls highlighted to find important information quickly. links to useful online resources both for you and for your patients. Offers contributions from hundreds of international authorities for world-class expertise in overcoming any clinical challenge.
Primary immunodeficiency diseases (PIDs) are a heterogeneous group of inherited disorders characterized by different defects in the development and function of the immune system. This book aims to increase the clinical awareness and knowledge of practicing clinicians regarding the diagnosis and management of PIDs. In order to achieve this goal, about 90 cases drawn from real life are presented, along with approximately 300 related questions. The selected case reports are the result of the invaluable cooperation of more than 40 scientists in the field of immunodeficiency. They focus both on the presenting features of patients with PIDs and on the required further investigation and management. Each of the numbered cases is followed by the questions, their answers, and additional discussion. Each question focuses on a particular aspect of the PID under consideration, and the topics covered include clinical diagnosis, laboratory findings, molecular mechanisms, and therapy.
This book presents case histories to illustrate in a clinical context essential points about the mechanisms of immunity. It includes cases that illustrate both recently discovered genetic immunodeficiencies and some more familiar and common diseases with interesting immunology.