alexa X-linked agammaglobulinemia | Argentina| 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.

  • X-linked agammaglobulinemia

    Treatment of X-linked agammaglobulinemia

    No curative therapy exists for X-linked agammaglobulinemia (XLA), or Bruton 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.

  • X-linked agammaglobulinemia

    Major Research on X-linked agammaglobulinemia in Argentina

    The research being carried out throughout the country can be stated as Perform initial studies measuring quantitative IgG, IgM, immunoglobulin E (IgE), and immunoglobulin A (IgA) levels. IgG levels should be measured first, preferably after age 6 months, when maternal levels decline. IgG levels below 100 mg/dL are usually indicative of X-linked agammaglobulinemia (XLA).

  • X-linked agammaglobulinemia

    Disease Statistics of X-linked agammaglobulinemia

    The disease statistics can be observed as a high frequency of severe infections (sepsis, 14% and meningitis, 16%) and a high proportion of patients with chronic lung disease. During follow-up, the development of chronic lung disease was significantly related with age at diagnosis and inappropriate treatment.

 

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