A Case of X-Lined Agammaglobulinemia Presenting Recurrent Respiratory Infections

Abstract

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by Bruton’s tyrosine kinase (Btk) gene mutation, resulting in the absence or low number of mature B cells, reduced levels of all immunoglobulin isotypes and lack of specific antibody production. Patients with XLA present recurrent bacterial infections including pneumonia, sinusitis, otitis and colitis, which may cause irreversible tissue damage. Infections usually improve or resolve with intravenous immunoglobulin therapy. We report here a 32-year-old male with XLA. He had a history of recurrent upper and lower respiratory infections, showing marked pan-hypogammaglobulinemia and the absence of circulating B-lymphocytes with missense mutation (R525Q) of the Btk gene. After regular immunoglobulin replacement therapy, he has not suffered from further and has led a normal daily life.