Rare Diseases of the Immune System – serie

This volume, written by well-known experts in the field, covers all aspects of Anti-Neutrophil Cytoplasmic Antibody (ANCA) Associated Vasculitis (AAV). The expression refers to a group of diseases, characterized by destruction and inflammation of small vessels. The clinical signs vary and affect several organs, such as the kidney, lung, skin, nervous system and others.The opening chapters give some historical hints, explain the genetic basis of the disease and provide insights into the pathogenesis derived from recent experimental studies and guides the reader through classification and nomenclature. A large part of the book is then devoted to a detailed description of the specific related diseases and their clinical presentations, the disease course, and potential complications. The advice regarding treatment is based on the best currently available evidence in this constantly evolving area.The book is part of Springer’s series Rare Diseases of the Immune System, which presents recently acquired knowledge on pathogenesis, diagnosis, and therapy with the aim of promoting a more holistic approach to these conditions. AAVs are systemic autoimmune diseases of unknown cause that affect small (to medium) sized blood vessels. They include granulomatosis with polyangiitis (formerly Wegener's granulomatosis), microscopic polyangiitis, and eosinophilic granulomatosis with polyangiitis (formerly Churg–Strauss syndrome).This volume will be an invaluable source of up-to-date information for all practitioners involved in the care of patients with these diseases.

The main aim of this volume is to provide an updated overview of the genetic basis of a group of complex disorders that are considered rare individually, but show a relatively high prevalence on the whole in developed countries: the rare autoimmune diseases. These are chronic disorders that involve long and expensive treatments with considerable side effects that may dramatically reduce the quality of life of affected people. Therefore, shedding light into their pathologic mechanisms is a major concern given their growing social and economic awareness and impact.General sections include different chapters on single entities as systemic lupus and sclerosis, Behçet’s disease, Sjogren’s syndrome and polymiositis, and sections devoted to autoimmune vasculitis, hepatic autoimmune conditions, as well as those affecting the nervous system, and a concluding chapter in which the shared predisposition amongst all diseases is discussed. All the chapters are given a homogeneous scheme in which the authors explain the clinical singularities of every disease and report the recent breakthrough discoveries related to them, giving a critical interpretation and suggesting future perspectives. All contributors are renowned researchers with high expertise in each disease. Due to the exponential increase in our understanding of the genetic causes of these complex diseases, a major advance in biomedical discovery is taking place. However, most of the achievements in this field are very recent and there is a lack of bibliography gathering them together. This book is thus filling a gap and will prove a useful companion to clinicians in the first place (internists, rheumatologists, clinical immunologists, and hematologists) but also to basic and applied researchers.

This book, written by very well-known opinion leaders in the field, covers all aspects of periodic and non –periodic fevers, and related disorders. The expression refers to several different auto-inflammatory diseases, showing similar symptoms–the primary symptom being a recurrent fever for an infectious cause cannot be found.  The opening chapters give some historical hints, explain the genetic basis of the disease and provide insights into the pathogenesis derived from recent experimental studies and guides the reader through classification and nomenclature. A large part of the book is then devoted to a detailed description of the specific related diseases and their clinical presentations, the disease course, and potential complications in both pediatric and adult patients. The advice regarding treatment is based on the best currently available evidence in this constantly evolving area. The book is part of Springer’s series Rare Diseases of the Immune System, which presents recently acquired knowledge on pathogenesis, diagnosis, and therapy with the aim of promoting a more holistic approach to these conditions. Autoinflammatory diseases are hereditary disorders that are caused by single-gene defects in innate immune regulatory pathways and are characterized by a clinical and biological inflammatory syndrome in which there is limited, if any, evidence of autoimmunity. Periodic and Non-Periodic Fevers will be an invaluable source of up-to-date information for all practitioners involved in the care of patients with these disease.

This book, written by very well-known opinion leaders in the field, covers all aspects of periodic and non –periodic fevers, and related disorders. The expression refers to several different auto-inflammatory diseases, showing similar symptoms–the primary symptom being a recurrent fever for an infectious cause cannot be found.  The opening chapters give some historical hints, explain the genetic basis of the disease and provide insights into the pathogenesis derived from recent experimental studies and guides the reader through classification and nomenclature. A large part of the book is then devoted to a detailed description of the specific related diseases and their clinical presentations, the disease course, and potential complications in both pediatric and adult patients. The advice regarding treatment is based on the best currently available evidence in this constantly evolving area. The book is part of Springer’s series Rare Diseases of the Immune System, which presents recently acquired knowledge on pathogenesis, diagnosis, and therapy with the aim of promoting a more holistic approach to these conditions. Autoinflammatory diseases are hereditary disorders that are caused by single-gene defects in innate immune regulatory pathways and are characterized by a clinical and biological inflammatory syndrome in which there is limited, if any, evidence of autoimmunity. Periodic and Non-Periodic Fevers will be an invaluable source of up-to-date information for all practitioners involved in the care of patients with these disease.

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.

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.

This volume of the series Rare Diseases of the Immune System presents detailed state of the art knowledge on the cellular primary immunodeficiencies; it includes 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 T cell immunological synapse. Readers will find comprehensive, in-depth descriptions of novel cellular PID genes and related clinical applications, mucosal T cells, and the various clinical phenotypes of cellular PIDs. Cellular Primary Immunodeficiencies  will be of high value for immunologists, pediatricians, rheumatologists, oncologists, internists, and infectious disease specialists and will also be informative for MD, Master and PhD students.

This volume of the series Rare Diseases of the Immune System presents detailed state of the art knowledge on the cellular primary immunodeficiencies; it includes 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 T cell immunological synapse. Readers will find comprehensive, in-depth descriptions of novel cellular PID genes and related clinical applications, mucosal T cells, and the various clinical phenotypes of cellular PIDs. Cellular Primary Immunodeficiencies  will be of high value for immunologists, pediatricians, rheumatologists, oncologists, internists, and infectious disease specialists and will also be informative for MD, Master and PhD students.

This volume on Rarer Arthropathies, part of the series "Rare Diseases of the Immune System" aims to fill a gap in the literature by informing and updating clinicians on the unusual and uncommon forms of arthritis and related musculoskeletal conditions. It will be a valuable go-to resource for clinicians to support them in differential diagnosis, in particular when facing unusual presentations. Nineteen chapters written by experts have covered a wide range of these conditions, providing first rate information on topics yet lacking adequate coverage; from Palindromic Rheumatism to SAPHO Syndrome and other chronic immune-mediated conditions, while also including arthritis in leprosy, tuberculosis and chikungunya.Smaller, crisp paragraphs and apt subheadings will help the readers in easily understanding the up to date information provided in the chapters. Line diagrams, original full-color clinical photographs and informative tables also support easy assimilation of information,turning this book in a useful ready reckoner on the desks and smartphones. All specialists, including rheumatologists, orthopedic surgeons, pediatricians, physicians practicing internal medicine and rehabilitation medicine will find this volume invaluable in   their daily clinical work.

This volume on Rarer Arthropathies, part of the series "Rare Diseases of the Immune System" aims to fill a gap in the literature by informing and updating clinicians on the unusual and uncommon forms of arthritis and related musculoskeletal conditions. It will be a valuable go-to resource for clinicians to support them in differential diagnosis, in particular when facing unusual presentations. Nineteen chapters written by experts have covered a wide range of these conditions, providing first rate information on topics yet lacking adequate coverage; from Palindromic Rheumatism to SAPHO Syndrome and other chronic immune-mediated conditions, while also including arthritis in leprosy, tuberculosis and chikungunya.Smaller, crisp paragraphs and apt subheadings will help the readers in easily understanding the up to date information provided in the chapters. Line diagrams, original full-color clinical photographs and informative tables also support easy assimilation of information,turning this book in a useful ready reckoner on the desks and smartphones. All specialists, including rheumatologists, orthopedic surgeons, pediatricians, physicians practicing internal medicine and rehabilitation medicine will find this volume invaluable in   their daily clinical work.

This volume aims at delivering the state-of-the-art scientific and clinical know-how for the management of patients with Connective Tissue Diseases (CTDs). With contributions from leading specialists from different disciplines, it presents the latest research findings on many aspects of the diseases in a clear, comprehensive way, and describes the most recent trends in treatment, such as the “treat to target” approach. Both basic science and clinical medicine are addressed, with emphasis on the most promising clinical and laboratory-based studies. The coverage is comprehensive in scope, and includes epidemiology, pathogenesis, autoantibodies and biomarkers, disease manifestations, involvement of different organs or systems, the relationships with other disorders, and biological therapy. Readers will find this second volume to be an excellent source of information on the current understanding of CTDs, and clinical approach to CTD, clearly conveying the progress made in recent years. Connective Tissue Disease – A Comprehensive Guide Vol.2 will be an invaluable source of up-to-date information for all practitioners involved in the care of patients with these complex diseases.

This handy volume, that can also serve as an integration to the preceding work Cellular Primary Immunodeficiencies by the same editor, presents detailed state of the art knowledge on Severe Combined Immunodeficiency (SCID) with extensive coverage of both basic science discoveries and the latest clinical advances in the field. The book is structured according to the most recent classifications including update on the immunological synapse, as well as on bioinformatics in primary immunodeficiencies leading the reader towards the computational immunology era. Readers will also find in-depth descriptions of SCID genes and related clinical application, and aspects such as differential diagnosis, clinical management, and the role of vaccines are also addressed. The authors are recognized experts world-wide and have crafted their chapters to turn Severe Combined Immunodeficiency in a valued, compact update for immunologists, paediatricians, internists, rheumatologists, and infectious diseases specialists, that MDs and PhD students will find informative as well.

Epigenetics, as well as all -omics fields of study, such as transcriptomics, proteomics and metabolomics, have caused a revolution in all branches of medicine in recent years. This book provides a detailed evidence-based overview of the latest developments in how the recent acquisitions on the human genome and epigenome is relevant, and how it impacts our understanding of rare diseases of the immune system. The first part features the evolving thread from genetics to epigenetics, their molecular basis, endocrine disruptors, as well as chapters devoted to the fetal programming hypothesis and functional basis of neurodevelopment, and the placenta as originating element. Successive chapters include contributions on the impact of epigenetics on cancer, as well as a comprehensive array of disorders as autoimmune disorders, allergic and metabolic diseases, systemic vasculitis, aging and inflammatory diseases, neurological and psychiatric conditions. The overview closes with considerations on the “-Omics” revolution and precision medicine, and the reflection of epigenetics on the microbiome.By providing guidance on how the latest information can be applied by the medical practitioner in day-to-day clinical practice, and collating the latest developments in rare diseases treatments to the “omics” that are relevant for the clinician while advocating for a patient-centered approach, Epigenetics and Rare Diseases will be a valued resource for clinicians, healthcare professionals, and patient associations.

This book, part of the series Rare Diseases of the Immune System, offers comprehensive, up-to-date coverage of the pathophysiology and management of the antiphospholipid syndrome (APS). Immunologic and genetic aspects are discussed and the pathogenic mechanisms responsible for such phenomena as APS-mediated thrombosis and pregnancy loss/complications are explained. The main clinical manifestations, classification criteria and diagnostic tools are identified, and close attention is paid to the nature of the involvement of various organs or organ systems in APS. Specific chapters describe the treatment of the different symptoms, therapies of value in avoiding recurrences, and innovative treatment approaches. The authors are senior experts in the field who are aided by younger fellows, ensuring that the book is also educationally oriented. This handy volume will be a valuable tool for postgraduates in training and professionals wishing to extend their knowledge of this specific syndrome.

This book, written by very well known opinion leaders in the field, covers all aspects of familial Mediterranean fever, the most common monogenic autoinflammatory disease. The opening chapters explain the genetic basis of the disease and provide insights into the pathogenesis derived from recent experimental studies. A large part of the book is then devoted to a detailed description of the typical and atypical clinical presentations, the disease course, and potential complications in both pediatric and adult patients. Guidance is provided on the measurement of disease severity and the management of patients in daily practice. The advice regarding treatment is based on the best currently available evidence and attention is also paid to important emerging treatments.The book is part of Springer’s series Rare Diseases of the Immune System, which presents recently acquired knowledge on pathogenesis, diagnosis, and therapy with the aim of promoting a more holistic approach to these conditions. Monogenic autoinflammatory diseases are hereditary disorders that are caused by single-gene defects in innate immune regulatory pathways and are characterized by a clinical and biological inflammatory syndrome in which there is limited, if any, evidence of autoimmunity. Familial Mediterranean fever itself is due to a mutation in the MEFV gene, which codes for the protein pyrin; it is characterized by periodic fever and episodes of painful inflammation in the abdomen, chest, and joints. Familial Mediterranean Fever will be an invaluable source of up-to-date information for all practitioners involved in the care of patients with the disease.

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.

In this volume devoted to systemic lupus erythematosus (SLE) and Sjögren syndrome, leading specialists from different disciplines present the latest research findings on many aspects of the diseases and describe the most recent trends in treatment, such as the “treat to target” approach. Both basic science and clinical medicine are addressed, with emphasis on the most promising clinical and laboratory-based studies. The coverage is comprehensive in scope, encompassing, for example, epidemiology, pathogenesis, autoantibodies and biomarkers, disease manifestations, involvement of different organs or systems, relationships with other disorders, biological therapy of SLE, and systemic treatment of Sjögren syndrome. Readers will find this first volume of Connective Tissue Disease to be an excellent source of information on the current understanding of, and clinical approach to, SLE and Sjögren syndrome that clearly conveys the progress made in recent years.

This book, part of the series Rare Diseases of the Immune System, offers comprehensive, up-to-date coverage of the pathophysiology and management of the antiphospholipid syndrome (APS). Immunologic and genetic aspects are discussed and the pathogenic mechanisms responsible for such phenomena as APS-mediated thrombosis and pregnancy loss/complications are explained. The main clinical manifestations, classification criteria and diagnostic tools are identified, and close attention is paid to the nature of the involvement of various organs or organ systems in APS. Specific chapters describe the treatment of the different symptoms, therapies of value in avoiding recurrences, and innovative treatment approaches. The authors are senior experts in the field who are aided by younger fellows, ensuring that the book is also educationally oriented. This handy volume will be a valuable tool for postgraduates in training and professionals wishing to extend their knowledge of this specific syndrome.

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.

This book, written by very well known opinion leaders in the field, covers all aspects of familial Mediterranean fever, the most common monogenic autoinflammatory disease. The opening chapters explain the genetic basis of the disease and provide insights into the pathogenesis derived from recent experimental studies. A large part of the book is then devoted to a detailed description of the typical and atypical clinical presentations, the disease course, and potential complications in both pediatric and adult patients. Guidance is provided on the measurement of disease severity and the management of patients in daily practice. The advice regarding treatment is based on the best currently available evidence and attention is also paid to important emerging treatments.The book is part of Springer’s series Rare Diseases of the Immune System, which presents recently acquired knowledge on pathogenesis, diagnosis, and therapy with the aim of promoting a more holistic approach to these conditions. Monogenic autoinflammatory diseases are hereditary disorders that are caused by single-gene defects in innate immune regulatory pathways and are characterized by a clinical and biological inflammatory syndrome in which there is limited, if any, evidence of autoimmunity. Familial Mediterranean fever itself is due to a mutation in the MEFV gene, which codes for the protein pyrin; it is characterized by periodic fever and episodes of painful inflammation in the abdomen, chest, and joints. Familial Mediterranean Fever will be an invaluable source of up-to-date information for all practitioners involved in the care of patients with the disease.

This book provides detailed information on the nosology, pathology, pathogenesis, clinical presentation, diagnosis and treatment of fibro-inflammatory disorders, rare diseases that often display systemic organ involvement. Among the conditions considered are IgG4-related disease, sclerosing cholangitis, Hashimoto’s and Riedel’s thyroiditis, retroperitoneal fibrosis/chronic periaortitis, mediastinal fibrosis, Erdheim-Chester disease, gadolinium-induced fibrosis, and sclerosing mesenteritis. This group of entities is still poorly defined and is characterized by the common denominator of chronic inflammatory infiltrate admixed with abundant fibrosis. IgG4-related disease is the prototypical example. Systemic Fibroinflammatory Disorders is the first book to draw together information on these conditions. As these diseases often require an interdisciplinary approach, the book is addressed to specialists of different disciplines, especially internists, rheumatologists, nephrologists, clinical immunologists, and hematologists.

In this volume devoted to systemic lupus erythematosus (SLE) and Sjögren syndrome, leading specialists from different disciplines present the latest research findings on many aspects of the diseases and describe the most recent trends in treatment, such as the “treat to target” approach. Both basic science and clinical medicine are addressed, with emphasis on the most promising clinical and laboratory-based studies. The coverage is comprehensive in scope, encompassing, for example, epidemiology, pathogenesis, autoantibodies and biomarkers, disease manifestations, involvement of different organs or systems, relationships with other disorders, biological therapy of SLE, and systemic treatment of Sjögren syndrome. Readers will find this first volume of Connective Tissue Disease to be an excellent source of information on the current understanding of, and clinical approach to, SLE and Sjögren syndrome that clearly conveys the progress made in recent years.

This book provides detailed information on the nosology, pathology, pathogenesis, clinical presentation, diagnosis and treatment of fibro-inflammatory disorders, rare diseases that often display systemic organ involvement. Among the conditions considered are IgG4-related disease, sclerosing cholangitis, Hashimoto’s and Riedel’s thyroiditis, retroperitoneal fibrosis/chronic periaortitis, mediastinal fibrosis, Erdheim-Chester disease, gadolinium-induced fibrosis, and sclerosing mesenteritis. This group of entities is still poorly defined and is characterized by the common denominator of chronic inflammatory infiltrate admixed with abundant fibrosis. IgG4-related disease is the prototypical example. Systemic Fibroinflammatory Disorders is the first book to draw together information on these conditions. As these diseases often require an interdisciplinary approach, the book is addressed to specialists of different disciplines, especially internists, rheumatologists, nephrologists, clinical immunologists, and hematologists.

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.

Behçet's syndrome can reasonably be considered a unique entity among diseases of the immune system for several reasons: It has specific features and, uniquely among the immune system pathologies, represents a link between autoimmune diseases, systemic vasculitis, and autoinflammatory diseases. In addition, it is of interest to a variety of specialists, including immunologists, rheumatologists, dermatologists, and ophthalmologists, and requires a complex multidisciplinary approach. Many aspects need to be considered in a syndrome that presents a wide spectrum of symptoms and for which the therapeutic armamentarium is expanding significantly, with the development of new treatments, not least the so-called biologics. This book offers comprehensive coverage of the disease by some of the world’s leading experts in Behçet's syndrome from all the relevant specialties. Epidemiology, genetics, pathogenesis, organ system involvement, differential diagnosis, novel treatments, surgical management,and prognosis are just some of the topics addressed. Behçet's Syndrome: From Pathogenesis to Treatment will be an invaluable reference for a range of practitioners, researchers, and undergraduates or postgraduates interested in immuno-rheumatology, dermatology, and rare diseases.​