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Autoimmune diseases are characterized by immune dysregulation, leading to immune-mediated damage of healthy tissues and cells. Despite increasing research, the exact cause of individual autoimmune disorders is not yet entirely understood. Pediatric autoimmune diseases, in particular, are often less extensively studied and present their own challenges to physicians in terms of diagnosis, as well as their treatment, often requiring a multidisciplinary approach. Understanding how autoimmune responses initiate and progress will allow us to develop novel therapeutics and improve disease management strategies. Inborn errors of immunity (IEI) are genetic disorders that have recently been linked to a series of early-onset autoimmune disorders. An example is the LRBA deficiency which may manifest as a series of autoimmune diseases, including inflammatory bowel disease, endocrinopathies, autoimmune hemolytic anemia, thrombocytopenia, arthritis, and SLE. The IEI may also manifest as increased susceptibility to infections, autoinflammatory, allergic, and/or malignant diseases, however, there are few IEI in which an autoimmune manifestation has never been observed.
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Paediatric Rheumatology is an indispensible resource for the identification and management of specific rheumatological disorders. As well as covering common and rare rheumatological problems, there are also chapters on investigations and emergencies, designed for quick reference. The handbook includes dedicated topics on systemic diseases affecting rheumatology; the relevant clinical guidelines and information needed for a rheumatologist to successfully management a young patient; and, a coloured section for guidance on rash-related investigations. Paediatric Rheumatology is also fully endorsed by the British Society for Paediatric and Adolescent Rheumatology and the UK Paediatric Rheumatology Clinical Studies Group.
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.