Article
Mutations of the Igbeta gene cause agammaglobulinemia in man.
The Journal of experimental medicine - 3 Sept 2007
Ferrari Simona, Lougaris Vassilios, Caraffi Stefano, Zuntini Roberta, Yang Jianying, Soresina Annarosa, Meini Antonella, Cazzola Giantonio, Rossi Cesare, Reth Michael, Plebani Alessandro
Abstract excerpt
Agammaglobulinemia is a rare primary immunodeficiency characterized by an early block of B cell development in the bone marrow, resulting in the absence of peripheral B cells and low/absent immunoglobulin serum levels. So far, mutations in Btk, mu heavy chain, surrogate light chain, Igalpha, and B cell linker have been found in 85-90% of patients with agammaglobulinemia. We report on the first patient with...
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