Resumo

GARCIA NIEBLAS, María del Carmen et al. Report of a Patient with Congenital Agammaglobulinemia. CCM [online]. 2013, vol.17, suppl.1, pp.596-600. ISSN 1560-4381.

The congenital agammaglobulinemia or Bruton’s disease is a primary immunodeficiency that is inherited as an X-linked recessive. This mutation prevents the gene encoding a cytoplasmic tyrosine kinase enzyme necessary for the maturation of B cells. This prevents the production of immunoglobulin replacement therapy and intravenous gamma is important. This condition was diagnosed in a child of six months who came to the health institution with uncontrolled infections, in critical stage. Quantification of immunoglobulins was performed and it demonstrated its absence, indicating intravenous gammaglobulin treatment at doses of 300 mg / kg weekly first and then every three weeks. Good results were obtained, without complications.

Palavras-chave : agammaglobulinemia; gene X-linked disease; kinases tyrosine protein; B lymphocytes.

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