105P- What is X-Linked Agammaglobulinemia, XLA, or Bruton Disease?
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- Опубликовано: 19 май 2013
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X-Linked agammaglobulinemia (XLA), or Bruton disease, is one of the more common forms of primary immune deficiency. It is characterized by the failure of pre-B cells to differentiate into B cells. XLA patients do not generate mature B cells. A mutation occurs at the Bruton's tyrosine kinase (Btk) gene that leads to a severe block in B cell development (at the pre-B to immature B cell stage) and a reduced Immunoglobulin (antibody) production in the serum.