A Case of X-linked Agammaglobulinemia / 대한내과학회지

ABSTRACT

X-linked agammaglobulinemia is attributed to the genetic defect for Bruton's tyrosine kinase at Xq22 region and the developmental arrest of pre-B lymphocytes. The characteristics of the disease are as follows; 1) male sex, 2) onset in infancy or early childhood, 3) severe panhypogammaglobulinemia, 4) normal cell mediated immunity, 5) recurrent, hardly controlled infection. The most common sites of infection are the respiratory tract and the gastrointestinal tract. The disease must be suspected when the recurrent, hardly controlled infection or the unusual, multiple sites of infection are present. Regular intravenous immune globulin approved the preventive effect against severe infection and fatal complication. But the final outcome remains grave in spite of intensive care. We report an adult case, 20 years old male patient, of X-linked agammaglobulinemia. He has been suffered from recurrent pneumonia and other sites of infection including meningitis and cellulitis. Pseudomonas aeruginosa was cultured from blood. X-linked agammaglobulinemia was diagnosed based on clinical history, severe panhypogammagloblinemia, lack of the gamma-fraction on the serum protein electrophoresis and absence of B-lymphocytes in peripheral blood. The clinical course waxed and waned until intravenous infusion of immune globulin, which dramatically improved pneumonia.