Inborn Errors Of Specific Immunity

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.

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: 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

Advances in Enzymology and Related Areas of Molecular Biology is a seminal series in the field of biochemistry, offering researchers access to authoritative reviews of the latest discoveries in all areas of enzymology and molecular biology. These landmark volumes date back to 1941, providing an unrivaled view of the historical development of enzymology. The series offers researchers the latest understanding of enzymes, their mechanisms, reactions and evolution, roles in complex biological process, and their application in both the laboratory and industry. Each volume in the series features contributions by leading pioneers and investigators in the field from around the world. All articles are carefully edited to ensure thoroughness, quality, and readability. With its wide range of topics and long historical pedigree, Advances in Enzymology and Related Areas of Molecular Biology can be used not only by students and researchers in molecular biology, biochemistry, and enzymology, but also by any scientist interested in the discovery of an enzyme, its properties, and its applications.