Agammaglobulinemia de Bruton (1952-2002). Cincuenta años de inmunodeficiencias primarias

Abstract

Abstract Fifty years ago Bruton reported the first case of X-linked agammaglobulinemia in Pediatrics. The Spanish first agammaglobulinemia was published in the Boletín of SCALP in 1962. Since this time, the concept and the diagnosis of Primary Immunodeficiencies has experimented a very important development. The genetic techniques have identified the Bruton's tyrosine kinase gene (btk) as the responsible of agammaglobulinemia; it has facilitated the identification of different severity forms. Besides, evidences are increasing supporting that btk gene is involved in some kind of infections, clinically very far of Bruton?s agammaglobulinemia.