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By Alessandro Plebani,Vassilios Lougaris

ISBN-10: 3319227130

ISBN-13: 9783319227139

ISBN-10: 3319372491

ISBN-13: 9783319372495

This e-book offers an up to date evaluate of agammaglobulinemia, an extraordinary type of fundamental immunodeficiency that is thought of the prototype of the congenital humoral defects, and that's characterised by means of the absence of peripheral B cells and intensely low serum immunoglobulin degrees. The booklet opens by way of discussing the hugely orchestrated early B telephone improvement within the bone marrow and the genes concerned in line with either human and animal versions. The pathogenesis and scientific presentation of X-linked agammaglobulinemia, because of mutations within the BTK (Bruton’s tyrosine kinase) gene, are then awarded intimately, by means of descriptions of the medical manifestations and molecular foundation of the fewer widespread autosomal recessive and autosomal dominant varieties of agammaglobulinemia.  sufferers’ administration by way of breathing problems, gammaglobulin substitute remedy and the aptitude worth of novel experimental healing ideas are  mentioned. The book’s last chapters supply a entire 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

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