Download e-book for kindle: Agammaglobulinemia by Alessandro Plebani, Vassilios Lougaris

By Alessandro Plebani, Vassilios Lougaris

ISBN-10: 3319227130

ISBN-13: 9783319227139

ISBN-10: 3319227149

ISBN-13: 9783319227146

This ebook presents an up to date review of agammaglobulinemia, a unprecedented type of fundamental immunodeficiency that's thought of the prototype of the congenital humoral defects, and that is characterised by means of the absence of peripheral B cells and intensely low serum immunoglobulin degrees. The ebook opens by means of discussing the hugely orchestrated early B mobilephone improvement within the bone marrow and the genes concerned in response to either human and animal versions. The pathogenesis and medical presentation of X-linked agammaglobulinemia, brought on by mutations within the BTK (Bruton’s tyrosine kinase) gene, are then offered intimately, by way of descriptions of the scientific manifestations and molecular foundation of the fewer common autosomal recessive and autosomal dominant sorts of agammaglobulinemia. sufferers’ administration by way of respiration problems, gammaglobulin alternative treatment and the aptitude price of novel experimental healing innovations are mentioned. The book’s last chapters provide 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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Extra info for Agammaglobulinemia

Example text

Some studies make a distinction between upper and of lower respiratory tract infections, with a frequency of lower airway infections between 29 and 65 % [2, 3, 6]. It is, however, likely that patients with agammaglobulinemia do suffer from upper as well as from lower respiratory tract infections. This is best described in an Italian cohort, of which only a minority was affected by upper airway infections alone, while more than half of the cohort suffered from both upper and lower airway infections [2].

Immunol Rev 203:216–234 15. Conley ME (2002) Early defects in B cell development. Curr Opin Allergy Clin Immunol 2(6):517–522, Review 16. Moin M, Aghamohammadi A, Farhoudi A, Pourpak Z, Resaei N, Movahedi M, Gharagozlou M, Ghazi BM, Zahed A, Abolmaali K, Mahmoudi M, Amami L, Bashashati M (2004) X-linked agammaglobulinemia: a survey of 33 Iranian patients. Immunol Invest 33:81–93 17. Stewart DM, Lian L, Nelson DL (2001) The clinical spectrum of Bruton’s agammaglobulinemia. Curr Allergy Asthma Rep 1(6):558–565, Review 18.

A) Shows a cross section of the lungs with normal airways and widened airways. jpg, Wikipedia Commons) clinical phenotype close to the XLA patients. Also patients with CVID show airway disease including sinusitis, pneumonia, and bronchiectasis at presentation at comparably high proportions [12]. 2 Respiratory Conditions During Therapy The introduction of immunoglobulin (Ig) replacement therapy and its later refinements have resulted in substantially improved survival rates and better health of the patients [2, 3, 7].

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Agammaglobulinemia by Alessandro Plebani, Vassilios Lougaris


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