By Alessandro Plebani, Vassilios Lougaris

ISBN-10: 3319227130

ISBN-13: 9783319227139

ISBN-10: 3319227149

ISBN-13: 9783319227146

This booklet presents an up to date assessment of agammaglobulinemia, a unprecedented kind of fundamental immunodeficiency that's thought of the prototype of the congenital humoral defects, and that's characterised by way of the absence of peripheral B cells and extremely low serum immunoglobulin degrees. The e-book opens by means of discussing the hugely orchestrated early B telephone improvement within the bone marrow and the genes concerned according 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, via descriptions of the scientific manifestations and molecular foundation of the fewer common autosomal recessive and autosomal dominant varieties of agammaglobulinemia. sufferers’ administration by way of breathing problems, gammaglobulin substitute treatment and the aptitude worth of novel experimental healing techniques are mentioned. The book’s ultimate 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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Curr Opin Immunol 6(4):623–630, Review 14. Conley ME, Broides A, Hernandes-Trujillo V, Howard V, Kanegane H, Miywaki T, Shurtleff SA (2005) Genetic analysis of patients with defects in early B cell development. 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.

Semin Immunol 18(1):56–66, Review 44. Hagman J, Lukin K (2006) Transcription factors drive B cell development. Curr Opin Immunol 18(2):127–134, Review 45. Lazorchak AS, Wojciechowski J, Dai M, Zhuang Y (2006) E2A promotes the survival of precursor and mature B lymphocytes. J Immunol 177(4):2495–2504 46. Lin H, Grosschedl R (1995) Failure of B-cell differentiation in mice lacking the transcription factor EBF. Nature 376(6537):263–267 47. Rudin CM, Thompson CB (1998) B-cell development and maturation.

During this admission, his immunological workup showed indosable immunoglobulin serum levels for all classes and absence of peripheral B cells (<1 %). Although the patient was started on IVIG, his clinical history was complicated by recurrent respiratory infections both of the upper and the lower respiratory tract and bacterial conjunctivitis. The third patient carrying a novel homozygous mutation in Igβ presented a history of respiratory infections; at the age of 15 months, she was admitted due to echthyma of the left gluteus and neutropenia [58].

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Agammaglobulinemia by Alessandro Plebani, Vassilios Lougaris


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