• Alessandro Plebani
  • Vassilios Lougaris

Part of the Rare Diseases of the Immune System book series (RDIS, volume 4)

Table of contents

  1. Front Matter
    Pages i-ix
  2. Hermann Eibel
    Pages 1-17
  3. Alessandro Plebani, Vassilios Lougaris
    Pages 19-34
  4. Gerard C. P. Schaafsma, Mauno Vihinen
    Pages 75-85
  5. G. Lopez-Herrera, J. L. Maravillas-Montero, J. C. Rodríguez-Alba, L. Santos-Argumedo
    Pages 99-115
  6. Back Matter
    Pages 117-119

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.


Autosomal recessive agammaglobulinemia B cells Bruton tyrosine kinase Bruton’s agammaglobulinemia Gammaglobulin replacement therapy Pre-B cell receptor

Editors and affiliations

  • Alessandro Plebani
    • 1
  • Vassilios Lougaris
    • 2
  1. 1.Pediatrics Clinic, Department of Clinical and Experimental SciencesUniversity of Brescia and Spedali Civili of BresciaBresciaItaly
  2. 2.Pediatrics Clinic, Department of Clinical and Experimental SciencesUniversity of Brescia and Spedali Civili of BresciaBresciaItaly

Bibliographic information

  • DOI
  • Copyright Information Springer International Publishing Switzerland 2015
  • Publisher Name Springer, Cham
  • eBook Packages Medicine
  • Print ISBN 978-3-319-22713-9
  • Online ISBN 978-3-319-22714-6
  • Series Print ISSN 2282-6505
  • Series Online ISSN 2283-6403
  • Buy this book on publisher's site
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