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Primary Immune Deficiency Diseases

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X-Linked Agammaglobulinemia (XLA)

XLA, an X-linked recessive trait, is an inherited immunodeficiency resulting in an inability to produce B cells or immunoglobulin (antibodies). The mutated gene responsible (the Bruton tyrosine kinase or BTK) is located on the X chromosome.

Because males only have one X chromosome, they will be affected if they inherit the X chromosome containing mutated BTK. Females have two X chromosomes so are much less likely to be affected, but they may be carriers if they inherit the altered X chromosome.

XLA is also called by these names:

  • Bruton type agammaglobulinemia
  • X-linked infantile agammaglobulinemia
  • Congenital agammaglobulinemia

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Last Updated July 17, 2012

Last Reviewed October 15, 2010