Bruton's agammaglobulinemia

A 27-month-old male began having bronchitis and/or otitis media every one to two months and repeated episodes of diarrhea and urinary tract infections at about the age of 6 months. He was admitted with a one-day history of cough, fever and diarrhea. The physical examination revealed a slight fever, evidence of left sided pneumonia and hepatomegaly (7 cm BCM). There was also joint swelling, warmth and effusion. Levels of IgG, IgA and IgM were all very low. The history and the findings were characteristic of Bruton's agammaglobulinemia, an X-linked disease due to a failure of differentiation from pre-B cell to mature B cells. Children with this disorder are protected by transplacentally acquired maternal IgG until about 6 months of age and then usually develop pyogenic infections. With the exception of enteroviruses (e.g. polyomyelitis), they are not susceptible to viral infection. Pyogenic infections may be prevented by the IV administration of gammaglobulins. Methotrexate is useful for the control of the joint manifestations of the disease.