By Alessandro Plebani,Vassilios Lougaris
This ebook presents an up-to-date evaluation of agammaglobulinemia, a unprecedented kind of fundamental immunodeficiency that's thought of the prototype of the congenital humoral defects, and that's characterised via 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 mobilephone improvement within the bone marrow and the genes concerned according to either human and animal versions. The pathogenesis and scientific presentation of X-linked agammaglobulinemia, as a result of mutations within the BTK (Bruton’s tyrosine kinase) gene, are then awarded intimately, via descriptions of the medical manifestations and molecular foundation of the fewer widespread autosomal recessive and autosomal dominant types of agammaglobulinemia. sufferers’ administration when it comes to breathing problems, gammaglobulin substitute treatment and the aptitude price of novel experimental healing techniques are mentioned. The book’s remaining chapters supply a finished 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