Agammaglobulinemia
Agammaglobulinemia
edited by Alessandro Plebani, Vassilios Lougaris
- 1st ed.
- Cham, Switzerland Springer 2015
- 1 recurso en línea (IX, 119 p.) 22 il., 18 il. col.
- Rare Diseases of the Immune System 4 2282-6505 .
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 (Brutonâ€yrosine 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.ÂСtientsâ€nagement in terms of respiratory complications, gammaglobulin replacement therapy and the potential value of novel experimental therapeutic strategies areÂscussed. The bookâ€losing 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.
9783319227146
Agammaglobulinemia
RC606 / 2015 EB
616.079
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 (Brutonâ€yrosine 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.ÂСtientsâ€nagement in terms of respiratory complications, gammaglobulin replacement therapy and the potential value of novel experimental therapeutic strategies areÂscussed. The bookâ€losing 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.
9783319227146
Agammaglobulinemia
RC606 / 2015 EB
616.079