alexa X-linked agammaglobulinemia | United States| PDF | PPT| Case Reports | Symptoms | Treatment

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X-linked Agammaglobulinemia

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  • X-linked agammaglobulinemia

    Pathophysiology

    X-linked agammaglobulinemia (XLA), or Bruton agammaglobulinemia, is an inherited immunodeficiency disease caused by mutations in the gene coding for Bruton tyrosine kinase (BTK). BTK is critical to the maturation of pre B cells to differentiating mature B cells. No curative therapy exists for X-linked agammaglobulinemia (XLA), or Bruton agammaglobulinemia.

  • X-linked agammaglobulinemia

    Pathophysiology

    X-linked agammaglobulinemia (XLA), or Bruton agammaglobulinemia, is an inherited immunodeficiency disease caused by mutations in the gene coding for Bruton tyrosine kinase (BTK). BTK is critical to the maturation of pre B cells to differentiating mature B cells. No curative therapy exists for X-linked agammaglobulinemia (XLA), or Bruton agammaglobulinemia.

  • X-linked agammaglobulinemia

    Treatment of X-linked agammaglobulinemia

    Treatment for XLA is IVIG. Typical doses are 400-600 mg/kg/mo given every 3-4 weeks. Doses and intervals can be adjusted based on individual clinical responses. Therapy should begin at age 10-12 weeks. Maintenance of an IgG trough level of 500-800 mg/dL is recommended. Therapy should be started at age 10-12 weeks. Currently, no evidence supports that one particular brand or route of administration (IV vs SC) is better than the other.

 

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