Download Agammaglobulinemia by Alessandro Plebani, Vassilios Lougaris PDF

By Alessandro Plebani, Vassilios Lougaris

This booklet presents an up-to-date review of agammaglobulinemia, a unprecedented type of basic 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 ebook opens via discussing the hugely orchestrated early B cellphone improvement within the bone marrow and the genes concerned in line with either human and animal types. The pathogenesis and scientific presentation of X-linked agammaglobulinemia, attributable to mutations within the BTK (Bruton’s tyrosine kinase) gene, are then awarded intimately, by way of descriptions of the scientific manifestations and molecular foundation of the fewer widespread autosomal recessive and autosomal dominant different types of agammaglobulinemia. sufferers’ administration by way of respiration problems, gammaglobulin alternative treatment and the capability worth of novel experimental healing recommendations are mentioned. The book’s remaining chapters provide 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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It is more likely that they have a 3 Pulmonary Pathology in Agammaglobulinemia: Diagnosis and Treatment 37 b Normal airway a Muscle Airway wall Normal airways c Airway with bronchiectasis Widened airway Lungs in cross-section Scarred and thickened airway wall Widened airways Mucus Fig. 1 Schematic view of bronchiectasis (c) indicating dilation and scarring of the bronchial wall, frequently accompanied by thickened airway wall and mucus obstruction of the airway lumen. (a) Shows a cross section of the lungs with normal airways and widened airways.

Gene therapy is one of them and has been applied in murine models with encouraging results [65], although clinical application is not under consideration yet. Another recent therapeutic approach used antisense oligonucleotides (ASOs), compounds that have the ability to modulate pre-mRNA splicing and alter gene expression, in BTK mutations that affect normal mRNA splicing [66]. Further experiments are required before considering this option in patients’ management. As mentioned before, and although regular Ig replacement treatment and correct antibiotic therapy have radically modified patients’ clinical history, their prognosis is still conditioned by the occurrence of complications.

Lin MT, Chien YH, Shyur SD, Huang LH, Chiang YC, Wen DC, Liang PH, Yang HC (2006) De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma. Ann Allergy Asthma Immunol 96(5):744–748 31. Liu AJ, Dao-Ung LP, McDonald D, Nanan R (2006) Chronic gingivitis in a new BTK mutation. Eur J Haematol 76(2):171–175 32. Buckley RH, Rolands DTJ (1973) Agammaglobulinemia, neutropenia, fever, and abdominal pain. J Allergy Clin Immunol 51:308–318 33. Cham B, Bonilla MA, Winkelstein JA (2002) Neutropenia associated with primary immunodeficiency diseases.

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