Abstract
We report on a 4.5-year-old boy with X-linked agammaglobulinemia (XLA). He had experienced recurrent acute otitis media. Before treatment with ventilation tube insertion, ABO blood testing showed a discrepancy between forward and reverse groupings. Immunologic assays revealed panhypogammaglobulinemia and a nearly complete absence of circulating B cells. Since the patient showed a deficient expression of Bruton's tyrosine kinase (BTK) protein in monocytes and mutation in the BTK gene, he was diagnosed as having XLA. The patient then received intravenous immunoglobulin replacement therapy. Although congenital immunodeficiency diseases are not common, they must be considered in children who experience recurrent upper respiratory infections including otitis media. A discrepancy between forward and reverse groupings of ABO blood testing might be a diagnostic clue to XLA.
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