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X-linked agammaglobulinemia is a primary immunodeficiency disorder that

involves humoral immunity deficiencies. It results from mutations in a gene on


the X chromosome that encodes Bruton tyrosine kinase (BTK). BTK is
essential for B-cell development and maturation; without it, maturation stops
before the B-cell stage resulting in no mature B cells and hence no antibodies.

As a result, male infants have very small tonsils and do not develop lymph
nodes; they have recurrent pyogenic lung, sinus, and skin infections with
encapsulated bacteria (eg, Streptococcus pneumoniae, Haemophilus
influenzae).

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