| Description |
1 online resource : illustrations |
| Contents |
Foreword; Preface; Contents; Contributors; 1: Introduction on Primary Immunodeficiency Diseases; 1.1 Definition; 1.1.1 Background; 1.1.2 History; 1.1.3 Epidemiology; 1.2 Etiology; 1.2.1 Classification; 1.2.2 Genetic Defects; 1.2.3 Pathophysiology; 1.3 Clinical Manifestations; 1.3.1 Infections; 1.3.2 Autoimmunity and Inflammatory Conditions; 1.3.3 Malignancies; 1.3.4 Other Manifestations; 1.4 Diagnosis; 1.4.1 Warning Signs and Symptoms; 1.4.2 Diagnostic Approach; 1.4.3 Approach to Laboratory Tests; 1.4.4 Phenotypic Approach; 1.5 Management; 1.5.1 General Considerations |
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1.5.2 Vaccination1.5.3 Antibiotics; 1.5.4 Immunoglobulin Replacement Therapy; 1.5.5 Transplantation; 1.5.6 Gene Therapy; 1.5.7 Adjunct Therapies; 1.5.8 Prevention; 1.5.9 Newborn Screening; References; 2: Combined T- and B-Cell Immunodeficiencies; 2.1 Introduction; 2.2 T-B+ Severe Combined Immunodeficiency; 2.2.1 Definition; 2.2.2 Etiology; 2.2.3 Clinical Manifestations; 2.2.4 Diagnosis; 2.2.5 Management; 2.3 T-B- Severe Combined Immunodeficiency; 2.3.1 Definition; 2.3.2 Etiology; 2.3.3 Clinical Manifestations; 2.3.4 Diagnosis; 2.3.5 Management; 2.4 Omenn Syndrome |
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2.4.1 Definition2.4.2 Etiology; 2.4.3 Clinical Manifestations; 2.4.4 Diagnosis; 2.4.5 Management; 2.5 Purine Salvage Pathway Defects; 2.5.1 Definition; 2.5.2 Etiology; 2.5.3 Clinical Manifestations; 2.5.4 Diagnosis; 2.5.5 Management; 2.6 AK2 Deficiency; 2.6.1 Definition; 2.6.2 Etiology; 2.6.3 Clinical Manifestations; 2.6.4 Diagnosis; 2.6.5 Management; 2.7 DOCK2 Deficiency; 2.7.1 Definition; 2.7.2 Etiology; 2.7.3 Clinical Manifestations; 2.7.4 Diagnosis; 2.7.5 Management; 2.8 Immunoglobulin Class Switch Recombination Deficiencies Affecting CD40-CD40L; 2.8.1 Definition |
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2.8.2 Etiology2.8.3 Clinical Manifestations; 2.8.4 Diagnosis; 2.8.5 Management; 2.9 Complete DiGeorge Syndrome; 2.9.1 Definition; 2.9.2 Etiology; 2.9.3 Clinical Manifestations; 2.9.4 Diagnosis; 2.9.5 Management; 2.10 CHARGE Syndrome; 2.10.1 Definition; 2.10.2 Etiology; 2.10.3 Clinical Manifestations; 2.10.4 Diagnosis; 2.10.5 Management; 2.11 Combined Immunodeficiency with Alopecia Totalis (WHN Deficiency); 2.11.1 Definition; 2.11.2 Etiology; 2.11.3 Clinical Manifestations; 2.11.4 Diagnosis; 2.11.5 Management |
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2.12 Combined Immunodeficiencies with Immuno-Osseous Dysplasias2.12.1 Definition; 2.12.2 Etiology; 2.12.3 Clinical Manifestations; 2.12.4 Diagnosis; 2.12.5 Management; 2.13 Combined Immunodeficiency with Intestinal Atresias (TTC7A Deficiency); 2.13.1 Definition; 2.13.2 Etiology; 2.13.3 Clinical Manifestations; 2.13.4 Diagnosis; 2.13.5 Management; 2.14 MHC Class II Deficiency; 2.14.1 Definition; 2.14.2 Etiology; 2.14.3 Clinical Manifestations; 2.14.4 Diagnosis; 2.14.5 Management; 2.15 MHC Class I Deficiency; 2.15.1 Definition; 2.15.2 Etiology |
| Summary |
Primary immunodeficiency diseases (PIDs) are a group of inborn disorders of the immune system, characterized by increased susceptibility to infections, autoimmunity, and cancers. Although PIDs were previously considered rare conditions, the number of diagnosed cases is growing rapidly, and about 300 different forms of PIDs have already been recognized. Nevertheless, because of inadequate medical awareness, misdiagnosis or late diagnosis occurs in a significant number of patients, leading to avoidable morbidity and mortality. The first edition of this practical reference textbook was widely welcomed by scientists and clinicians from around the world. This 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. Every effort has been made to ensure that, throughout, the text is easy to read and readily comprehensible. The 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 |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Online resource; title from PDF title page (SpringerLink, viewed December 8, 2016) |
| Subject |
Immunological deficiency syndromes.
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Immunological deficiency syndromes -- Diagnosis
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Immunological deficiency syndromes -- Treatment
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Immunologic Deficiency Syndromes
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HEALTH & FITNESS -- Diseases -- General.
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MEDICAL -- Clinical Medicine.
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MEDICAL -- Diseases.
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MEDICAL -- Evidence-Based Medicine.
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MEDICAL -- Internal Medicine.
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Immunological deficiency syndromes
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| Genre/Form |
Electronic books
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| Form |
Electronic book
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| Author |
Rezaei, Nima, editor
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Aghamohammadi, Asghar, editor
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Notarangelo, Luigi, editor
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| ISBN |
9783662529096 |
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3662529092 |
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3662529076 |
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9783662529072 |
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