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2013, Number S1

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Correo Científico Médico 2013; 17 (S1)

Report of a patient with congenital agammaglobulinemia

García NMC, García NRM, Rodríguez MM, García NLA, García NEM, Cruz AY
Full text How to cite this article

Language: Spanish
References: 10
Page: 596-600
PDF size: 170.02 Kb.


Key words:

agammaglobulinemia, gene X-linked disease, kinases tyrosine protein, B lymphocytes.

ABSTRACT

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.


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Correo Científico Médico. 2013;17