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Pathology - Bruton's Agammaglobulinemia
Bruton’s agammaglobulinemia is an X-linked recessive illness caused by loss of a tyrosine kinase (Btk) gene, leading in the failure of pre-B cells to grow into mature B cells. All patients will be male and typically begin presenting with illnesses around about 6 months of age, when maternal antibody protection ends. Recurrent febrile sinopulmonary infections owing to pneumococcus and Haemophilus are prevalent. Patients may be noticed to have absent tonsils, as in this example, due to lack of lymphoproliferative germinal centers. Laboratory investigations will show absence of B cells on peripheral smear, and immunoglobulin electrophoresis will demonstrate a severely reduced immunoglobulin level, usually at 10% or less of the normal value.
Bruton’s agammaglobulinemia is an X-linked recessive illness caused by loss of a tyrosine kinase (Btk) gene, leading in the failure of pre-B cells to grow into mature B cells. All patients will be male and typically begin presenting with illnesses around about 6 months of age, when maternal antibody protection ends. Recurrent febrile sinopulmonary infections owing to pneumococcus and Haemophilus are prevalent. Patients may be noticed to have absent tonsils, as in this example, due to lack of lymphoproliferative germinal centers. Laboratory investigations will show absence of B cells on peripheral smear, and immunoglobulin electrophoresis will demonstrate a severely reduced immunoglobulin level, usually at 10% or less of the normal value.
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