Vol.99 No.2 contentsPRACTICA OTO-RHINO-LARYNGOLOGICA
Vol. 99 No. 2 February 2006
A Case of X-linked Agammaglobulinemia with Recurrent
Otitis Media Detected by Preoperative Test
Motoki Sekine, Masahiro Takahashi, Takahide Hamano,
Kenji Okami, Masahiro Iida and Miharu Yabe
(Tokai University of Medicine)
Mayuri Okami
(Samukawa Hospital)
Hirokazu Kanegane and Toshio Miyawaki
(Toyama Medical and Pharmaceutical University)
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.
Key words : X-linked agammaglobulinemia, ABO blood testing, recurrent otitis media, intravenous immunoglobulin replacement therapy