Article
Agammaglobulinemia: causative mutations and their implications for novel therapies.
Expert review of clinical immunology - 1 Dec 2013
Berglöf Anna, Turunen Janne J, Gissberg Olof, Bestas Burcu, Blomberg K Emelie M, Smith C I Edvard
Abstract excerpt
Agammaglobulinemias are primary (inherited) immunodeficiencies characterized by the lack of functional B-cells and antibodies, and are caused by mutations in genes encoding components of the pre-B-cell or B-cell receptor, or their signaling pathways. The known genetic defects do not account for all agammaglobulinemic patients, suggesting that novel mutations underlying the disease remain to be found. While...
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