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Agammaglobulinemia
This book provides an updated overview of agammaglobulinemia, a rare form of primary immunodeficiency which is considered the prototype of the congenital humoral defects, and which is characterized by the absence of peripheral B cells and very low serum immunoglobulin levels. The book opens by discussing the highly orchestrated early B cell development in the bone marrow and the genes involved based on both human and animal models. The pathogenesis and clinical presentation of X-linked agammaglobulinemia, caused by mutations in the BTK (Bruton’s tyrosine kinase) gene, are then presented in detail, followed by descriptions of the clinical manifestations and molecular basis of the less frequent autosomal recessive and autosomal dominant forms of agammaglobulinemia. Patients’ management in terms of respiratory complications, gammaglobulin replacement therapy and the potential value of novel experimental therapeutic strategies are discussed. The book’s closing chapters offer a comprehensive and updated description of mutations in the BTK gene, and the expression and function of BTK in cells other than B cells.
Primary Immunodeficiency Diseases
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.
Immunoglobulin Therapy in the 21st Century: The Dark Side of the Moon
In the early decades since the introduction in the early '80s of immunoglobulin therapy many studies tried to identify which clinical indications might benefit from the therapy, which treatment’s schedules are effective and safe. It is universally accepted that immunoglobulin therapy is a life-saving treatment in patients with PID. The rise of new indications for further different clinical conditions resulted in a steady increase in demand for immunoglobulins. Currently the consumption of immunoglobulin for PID represents a small fraction of the market. In the recent past we have been observing: 1) An increase in the demand for plasma and in the consequent need to increase the number of do...
Neonatology
This new textbook wants to offer to neonatologists and pediatricians a modern and complete view of the various problems and aspects of neonatology, currently one of the most complex and advanced fields of pediatrics. The first chapters will be dedicated to the epidemiology of neonatal mortality and morbidity and to the conditions responsible for neonatal risk. A section will be devoted to organizational problems of hospitals and home services for efficient modern neonatal and infant care. Particular attention will be paid to neonatal care, medico-legal questions, examination of newborns and current availability of laboratory facilities and instrumentation for identification of perinatal abno...
Clinical Cases in Primary Immunodeficiency Diseases
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.
Primary Immunodeficiency Diseases
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.
Humoral Primary Immunodeficiencies
This book presents detailed state of the art knowledge on the humoral primary immunodeficiencies (PIDs), i.e., disorders arising from impaired antibody production due to defects intrinsic to B cells or defective interaction between B and T cells. There is extensive coverage of both basic science discoveries and the latest clinical advances in the field. The book is structured in accordance with the most recent classification of PIDs and also covers updates on the B cell immunological synapse. Readers will find comprehensive, in-depth descriptions of novel humoral PID genes and related clinical applications, mucosal B cells, and the various clinical phenotypes of humoral PIDs. Aspects such as differential diagnosis, clinical management in children and adults, and the role of vaccines are also addressed. The authors are all recognized experts from Europe, Australia, and the United States. Humoral Primary Immunodeficiencies will be of high value for immunologists, pediatricians, rheumatologists, oncologists, internists, and infectious disease specialists and will also be informative for MD and PhD students.
Large and Medium Size Vessel and Single Organ Vasculitis
In this book, detailed information on the nosology, pathology, pathogenesis, clinical presentation, diagnosis and treatment of large- and medium-sized vessel and single-organ vasculitis is provided and critically discussed by the most expert physicians and researchers in the field. Among the conditions considered are giant cell arteritis, Takayasu arteritis, polyarteritis nodosa, primary central nervous system vasculitis, isolated aortitis, isolated gastrointestinal vasculitis, cutaneous vasculitis and isolated genitourinary vasculitis. The role of histopathology in the diagnosis and prognosis of these vasculitis is evaluated, along with the part played by imaging studies in diagnosing and monitoring these diseases, while indications and limitations of the available imaging modalities are discussed as well. The expanding role of biological agents for the treatment of the large vessel vasculitis is addressed, as well as the current approaches to these diseases. This book will be a valuable companion in decision-making for medical practitioners, internists, specialists, researchers and postgraduate students interested in the intriguing fields of vasculitis and rare diseases.
