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Books > Medicine > Clinical & internal medicine > Haematology
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Agammaglobulinemia (Paperback, Softcover reprint of the original 1st ed. 2015)
Loot Price: R3,835
Discovery Miles 38 350
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Agammaglobulinemia (Paperback, Softcover reprint of the original 1st ed. 2015)
Series: Rare Diseases of the Immune System, 4
Expected to ship within 10 - 15 working days
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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.
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