Agammaglobulinemia

Alessandro Plebani, Vassilios Lougaris

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English

Springer International Publishing AG
23 August 2016

Immunology; Haematology; Rheumatology; Paediatric medicine; Cellular biology (cytology)

Series: Rare Diseases of the Immune System

Summary
Details

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.

Edited by: Alessandro Plebani, Vassilios Lougaris
Imprint: Springer International Publishing AG
Country of Publication: Switzerland
Edition: Softcover reprint of the original 1st ed. 2015
Volume: 4
Dimensions: Height: 235mm, Width: 155mm,
Weight: 2.117kg
ISBN: 9783319372495
ISBN 10: 3319372491
Series: Rare Diseases of the Immune System
Pages: 119
Publication Date: 23 August 2016
Audience: Professional and scholarly , Undergraduate
Format: Paperback
Publisher's Status: Active