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Agammaglobulinemia

Plebani, Alessandro.

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Agammaglobulinemia

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	Agammaglobulinemia/ edited by Alessandro Plebani, Vassilios Lougaris.
其他作者:	Plebani, Alessandro.
出版者:	Cham :Springer International Publishing : : 2015.,
面頁冊數:	ix, 119 p. :ill., digital ;24 cm.
內容註:	Early B Cell Biology -- Agammaglobulinemia: Basic Pathogenesis and Clinical Spectrum (Including X-Linked and Autosomal Recessive Forms) -- Pulmonary Complications in Agammaglobulinemia -- Immunoglobulin Replacement Therapy: Past, Present, Future -- Mutational Spectrum of BTK: A Comprehensive Description -- Novel Therapeutic Options for X-Linked Agammaglobulinemia -- BTK in Non B Cells.
Contained By:	Springer eBooks
標題:	Agammaglobulinemia. -
電子資源:	http://dx.doi.org/10.1007/978-3-319-22714-6
ISBN:	9783319227146

Agammaglobulinemia
Agammaglobulinemia[electronic resource] /edited by Alessandro Plebani, Vassilios Lougaris. - Cham :Springer International Publishing :2015. - ix, 119 p. :ill., digital ;24 cm. - Rare diseases of the immune system,42282-6505 ;. - Rare diseases of the immune system ;4..

Early B Cell Biology -- Agammaglobulinemia: Basic Pathogenesis and Clinical Spectrum (Including X-Linked and Autosomal Recessive Forms) -- Pulmonary Complications in Agammaglobulinemia -- Immunoglobulin Replacement Therapy: Past, Present, Future -- Mutational Spectrum of BTK: A Comprehensive Description -- Novel Therapeutic Options for X-Linked Agammaglobulinemia -- BTK in Non B Cells.

This book provides an updated overview of agammaglobulinemia, a rare form of primary immunodeficiency which is considered the prototype of the congenital humoral defects, and which is characterized by the absence of peripheral B cells and very low serum immunoglobulin levels. The book opens by discussing the highly orchestrated early B cell development in the bone marrow and the genes involved based on both human and animal models. The pathogenesis and clinical presentation of X-linked agammaglobulinemia, caused by mutations in the BTK (Bruton's tyrosine kinase) gene, are then presented in detail, followed by descriptions of the clinical manifestations and molecular basis of the less frequent autosomal recessive and autosomal dominant forms of agammaglobulinemia. Patients' management in terms of respiratory complications, gammaglobulin replacement therapy and the potential value of novel experimental therapeutic strategies are discussed. The book's closing chapters offer a comprehensive and updated description of mutations in the BTK gene, and the expression and function of BTK in cells other than B cells.

ISBN: 9783319227146

Standard No.: 10.1007/978-3-319-22714-6doiSubjects--Topical Terms:

2163189
Agammaglobulinemia.

LC Class. No.: RC606

Dewey Class. No.: 616.979

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520 $a This book provides an updated overview of agammaglobulinemia, a rare form of primary immunodeficiency which is considered the prototype of the congenital humoral defects, and which is characterized by the absence of peripheral B cells and very low serum immunoglobulin levels. The book opens by discussing the highly orchestrated early B cell development in the bone marrow and the genes involved based on both human and animal models. The pathogenesis and clinical presentation of X-linked agammaglobulinemia, caused by mutations in the BTK (Bruton's tyrosine kinase) gene, are then presented in detail, followed by descriptions of the clinical manifestations and molecular basis of the less frequent autosomal recessive and autosomal dominant forms of agammaglobulinemia. Patients' management in terms of respiratory complications, gammaglobulin replacement therapy and the potential value of novel experimental therapeutic strategies are discussed. The book's closing chapters offer a comprehensive and updated description of mutations in the BTK gene, and the expression and function of BTK in cells other than B cells.
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