Resumo

MARSAN SUAREZ, Vianed. Bruton or X-linked agammablobulinemia: Clinical, molecular and therapeutic aspects. Rev Cubana Hematol Inmunol Hemoter [online]. 2001, vol.17, n.3, pp. 164-170. ISSN 1561-2996.

Bruton or X-linked agammaglobulinemia is the prototype of primary B-cell deficiency. Affected male children present with recurrent infections and autoimmune manifestations at the age of 6 months on. The use of modern molecular biology techniques made it possible to detect the gene responsible for the disease in locus Xq22. Genetic character of the disease also allows the detection of carrier mothers and the prenatal diagnosis. Currently, the research on the molecular aspects of the disease continues to be deepened so as to handle the genetic material of patients for therapeutical use, which will result in a final cure for the disease

Palavras-chave : AGAMMAGLOBULINEMIA [diagnosis]; X CHROMOSOME [immunology]; B-LYMPHOCYTES; PROTEIN TYROSINE KINASE [deficiency].

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