By Alessandro Plebani,Vassilios Lougaris
This ebook offers an up-to-date evaluation of agammaglobulinemia, an extraordinary kind of basic immunodeficiency that's thought of the prototype of the congenital humoral defects, and that's characterised by means of the absence of peripheral B cells and extremely low serum immunoglobulin degrees. The e-book opens by way of discussing the hugely orchestrated early B cellphone improvement within the bone marrow and the genes concerned in accordance with either human and animal types. The pathogenesis and scientific presentation of X-linked agammaglobulinemia, because of mutations within the BTK (Bruton’s tyrosine kinase) gene, are then provided intimately, by way of descriptions of the scientific manifestations and molecular foundation of the fewer widespread autosomal recessive and autosomal dominant kinds of agammaglobulinemia. sufferers’ administration by way of respiration problems, gammaglobulin substitute remedy and the capability price of novel experimental healing concepts are mentioned. The book’s last chapters supply a complete and up-to-date description of mutations within the BTK gene, and the expression and serve as of BTK in cells except B cells.
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Agammaglobulinemia (Rare Diseases of the Immune System) by Alessandro Plebani,Vassilios Lougaris