What is the standard long-term treatment for Bruton’s agammaglobulinemia?

Study for the Medical Council of Canada Qualifying Examination (MCCQE) I. Engage with flashcards and multiple-choice questions with detailed feedback. Prepare confidently!

Bruton’s agammaglobulinemia is a primary humoral immunodeficiency caused by a BTK mutation that prevents B-cell maturation, leaving very low immunoglobulins and a high risk of recurrent bacterial infections after maternal antibodies wane. The standard long-term treatment is lifelong immunoglobulin replacement to provide the missing IgG and opsonizing antibodies, helping protect against infections. This replacement can be given intravenously or subcutaneously, typically every 3–4 weeks for IVIG, to maintain protective trough levels and reduce infection frequency. Antibiotics may treat infections or be used prophylactically, but they don’t replace the missing antibodies over the long term. Bone marrow transplant is not the standard first-line approach for isolated Bruton’s agammaglobulinemia due to its risks, and interferon therapy is not indicated for this condition.