Overview
- Provides a comprehensive and detailed overview of a rare form of primary immunodeficiency
- Explains the genetic basis of the disease, with an overview of animal models
- Describes advanced and experimental therapeutic approaches
Part of the book series: Rare Diseases of the Immune System (RDIS, volume 4)
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Table of contents (7 chapters)
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Front Matter
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Back Matter
Keywords
About this book
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.
Editors and Affiliations
Bibliographic Information
Book Title: Agammaglobulinemia
Editors: Alessandro Plebani, Vassilios Lougaris
Series Title: Rare Diseases of the Immune System
DOI: https://doi.org/10.1007/978-3-319-22714-6
Publisher: Springer Cham
eBook Packages: Medicine, Medicine (R0)
Copyright Information: Springer International Publishing Switzerland 2015
Hardcover ISBN: 978-3-319-22713-9Published: 30 October 2015
Softcover ISBN: 978-3-319-37249-5Published: 23 August 2016
eBook ISBN: 978-3-319-22714-6Published: 12 October 2015
Series ISSN: 2282-6505
Series E-ISSN: 2283-6403
Edition Number: 1
Number of Pages: IX, 119
Topics: Immunology, Rheumatology, Hematology, Pediatrics, Cell Biology