Primary Immunodeficiency Disorders

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 therapies Highlights the importance of studying humans to understand mechanisms of disease that affect humans

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.

This issue of Immunology and Allergy Clinics of North America, Guest Edited by Anthony Montanaro, MD, is devoted to Primary Immunodeficiency Disorders. Dr. Montanaro has assembled a group of expert authors to review the following topics: Overview of Immunodeficiency Disorder; Severe Combined Immunodeficiency Disorder; Specific Antibody Deficiencies; Common Variable Immunodeficiency; Pulmonary Manifestations of Primary Immunodeficiency Disorders; Approach to the Child with Recurrent Infections; Immunoglobulin Treatment for Primary Immunodeficiency; Bone Marrow Transplantation for Primary Immunodeficiency; and Autoimmune Manifestations of Primary Immunodeficiency.

This book provides a broad overview of the respiratory manifestations associated with Primary Immune deficiencies (PID) congenital genetic defects such as infections, chronic inflammation, autoimmunity, lymphoproliferation, allergic manifestations and rare forms of cancer. Since the most common site of involvement in PID is the lung, the pulmonologists (pediatrics or adult), Internists and General Practitioners may be among the first to recognize the pattern of pulmonary disorders, leading to diagnosis of PID. Pulmonary complications present a significant cause of morbidity and also mortality among patients suffering from different forms of PID. With the prevalence of lung infections and disease so high in PID patients, respiratory professionals will find this book to be an essential resource for diagnosing, managing and referring PID related pulmonary disorders in clinical practice.

This third edition of Primary Immunodeficiency Diseases provides readers with the historic and scientific background, clinical presentations, immunologic characteristics, and the molecular/genetic underpinnings of this rapidly enlarging class of 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.

Topic Editor Prof. Lennart Hammarström holds equity in ImmunoIVD. All other Topic Editors declare no competing interests with regards to the Research Topic subject.

This issue of Immunology and Allergy Clinics of North America, Guest Edited by Dr. Lisa Kobrynski, is devoted to Primary Immune Deficiencies. Articles in this issue include: Personalized therapy: Immunoglobulin replacement for antibody deficiency; Newborn Screening for Severe Combined Immunodeficiency: Update on newborn screening and lessons learned; Update on Advances in Hematopoietic Cell Transplantation for Primary Immunodeficiency Disorders; Hereditary Autoinflammatory Disorders: Recognition and treatment of inflammatory disorders of the immune system; Use of Immunomodulatory Agents to Treat Primary Immune Deficiencies: Mechanism-based therapy; Secondary Hypogammaglobulinemia: An increasingly recognized complication of treatment with immunomodulators and post-solid organ transplantation; Use of Vaccines in Primary Immunodeficiency; Gastrointestinal Manifestations and Complications of Primary Immunodeficiency Disorders; Hyper IgE Syndromes; Early Onset Inflammatory Bowel Disease; and Genome Testing to Diagnose Primary Immunodeficiency Disorders and to Identify Targeted Therapy.

This dissertation, "Primary Immunodeficiency Disorders in Southeast Asia: Needs, Priorities and Opportunities" by Pui-wah, Pamela, Lee, 李珮華, was obtained from The University of Hong Kong (Pokfulam, Hong Kong) and is being sold pursuant to Creative Commons: Attribution 3.0 Hong Kong License. The content of this dissertation has not been altered in any way. We have altered the formatting in order to facilitate the ease of printing and reading of the dissertation. All rights not granted by the above license are retained by the author. Abstract: Primary immunodeficiency disorders (PID) are rare inborn errors of the immune system. Patients with PID are susceptible to infections, autoimmunity, lymphoproliferation, allergy and cancer as a result of immune aberrations. The field of PID is marked by rapid discovery in genetic etiologies, disease mechanisms and novel treatments. However, the gap between cutting-edge scientific research and its translation to clinical practice is widening, as the lack of resources and expertise in PID remains the critical bottle-neck in many countries. In 2009, The Asian Primary Immunodeficiency (APID) Network was established by the Department of Paediatrics and Adolescent Medicine, The University of Hong Kong with the mission to promote awareness of PID among clinicians in mainland China and Southeast Asia by means of a consultative platform, and to offer genetic tests for patients with suspected PID for diagnostic confirmation. This thesis provides a comprehensive review of the clinical characteristics and genetic findings of patients referred to the APID Network. The trend and current status of PID service development in Asia was analyzed, with an aim to identify the needs and priorities in improving the standard of care for PID. Data supported a major improvement PID care in terms of the age of diagnosis, particularly in X-linked agammaglobulinemia and Wiskott-Aldrich syndrome. However, treatment remained a major issue for severe combined immunodeficiency due to disease severity and the lack of expertise and resources, limiting the availability of hematopoietic stem cell transplantation which is the life-saving procedure to these children. Long-term follow-up and outcome data are largely unavailable for PID in Asia. All these are imminent issues to be tackled. The close collaboration among immunology centers and systematic data analysis constitute the foundation for research on PID. This provides insights into the phenotypic and genetic diversities, as well as unique disease presentations in Asia which are not otherwise described in the literature. This study highlights the susceptibility to BCG-osis, tuberculosis, melioidosis and Chromobacterium violaceum infection in patients with chronic granulomatous disease. By performing a detailed systematic literature review of Penicillium marneffei infection, a form of endemic mycosis in Southeast Asia, penicilliosis was first advocated as an indicator for PID in HIV-negative individuals. This was followed by the discovery of autosomal dominant STAT1 defect as a genetic predisposition for this fatal infectious disease. The collaborative network also provides exciting opportunities for discovering novel PID. Our work demonstrated that whole exome sequencing is readily applicable to the clinical setting for identifying monogenic cause of well-defined phenotypes, and is particularly valuable in multi-centered studies involving patients from diverse ethnic background. Our findings also revealed how whole exome sequencing could uncover atypical phenotypes of classical PID, which would otherwise be missed by adopting an algorithmic diagnostic approach. The continuous efforts of the APID Network will not only directly benefit more patients and their families, but will undoubtedly contribute to the advancement of knowledge in PID. Subjects: Immunological deficiency syndromes - Southeast Asia

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.

Stiehm's Immune Deficiencies focuses on immunodeficiencies in children and adults. This book covers the many advances in the study of immunodeficiency. Stiehm's Immune Deficiencies includes 62 chapters covering topics such as newly described syndromes, genetic diagnosis, molecular abnormalities, newborn screening, and current therapies. Provides practical guidance to practitioners dealing with the day-to-day issues of diagnosis and management of immune deficient patients Covers both clinical management and scientific advances in one place Includes newly described disorders in various periodic updates to maintain the breadth of the reference

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

Primary immunodeficiency diseases, first recognized 60 years ago, are inherited disorders that affect human adaptive and innate immunity. In most cases, affected individuals experience recurrent infections, but they may also suffer from autoimmune diseases and malignancies. This third edition of Primary Immunodeficiency Diseases provides readers with the historic and scientific background, clinical presentations, immunologic characteristics, and the molecular/genetic underpinnings of this rapidly enlarging class of diseases. With up-to-date diagnostic tools and therapeutic options -- from prophylactic anti-infective measures to hematopoietic stem cell transplantation and gene therapy -- this volume will remain an authoritative resource on this increasingly important area.