TY - BOOK ID - 7691046 TI - Agammaglobulinemia AU - Plebani, Alessandro. AU - Lougaris, Vassilios. PY - 2015 SN - 3319227130 3319227149 PB - Cham : Springer International Publishing : Imprint: Springer, DB - UniCat KW - Microbiology & Immunology KW - Biology KW - Health & Biological Sciences KW - Immunoglobulins. KW - Agammaglobulinemia. KW - Agammaglobulinemia KW - Treatment. KW - Gamma globulin deficiency KW - Hypogammaglobulinemia KW - Antibodies KW - Immune globulins KW - Immune serum globulin KW - Medicine. KW - Immunology. KW - Hematology. KW - Rheumatology. KW - Pediatrics. KW - Cell biology. KW - Biomedicine. KW - Cell Biology. KW - Blood protein disorders KW - Immunological deficiency syndromes KW - Lymphoproliferative disorders KW - Blood proteins KW - Globulins KW - Plasma cells KW - Antibody diversity KW - Antigens KW - Bacterial immunoglobulin-binding proteins KW - Cytology. KW - Cell biology KW - Cellular biology KW - Cells KW - Cytologists KW - Paediatrics KW - Pediatric medicine KW - Medicine KW - Children KW - Internal medicine KW - Connective tissues KW - Joints KW - Haematology KW - Blood KW - Immunobiology KW - Life sciences KW - Serology KW - Diseases KW - Health and hygiene UR - https://www.unicat.be/uniCat?func=search&query=sysid:7691046 AB - 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. ER -