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What're the diagnostic criteria for Bruton's (X-linked) agammaglobulinemia?

User Takasu
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Final answer:

X-linked agammaglobulinemia, also known as Bruton's agammaglobulinemia, is a genetic disorder characterized by a deficiency in B cells and specific antibody production. The diagnostic criteria include recurrent infections, low or absent levels of immunoglobulins in the serum, and impaired B-cell maturation and differentiation.

Step-by-step explanation:

X-linked agammaglobulinemia, also known as Bruton's agammaglobulinemia, is a genetic disorder characterized by a deficiency in B cells, leading to a lack of specific antibody production. The diagnostic criteria for this condition include:

  1. Recurrent infections, especially with extracellular pathogens such as Haemophilus influenzae, Streptococcus pneumoniae, S. pyogenes, and S. aureus.
  2. Low or absent levels of immunoglobulins (antibodies) in the serum.
  3. Impaired B-cell maturation and differentiation, specifically a halt at the pre-B-cell stage of growth due to a mutation in the BTK gene.

This condition is inherited on the X chromosome, and its presence can be confirmed through genetic testing for the BTK gene mutation.

User Anentropic
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