A Case of Bruton’s Disease with Normal Immunoglobulin G Level

ABSTRACT Introduction: X-linked agamaglobulinemia (XLA) is a genetic disease in males with less than 2% CD19+ B cells resulting from a mutation in the Bruton’s tyrosine kinase (Btk) gene which leads to B cell arrest during differentiation. These patients present with severe infections early in life. Here we present a case of XLA with lack of B cells but normal levels of immunoglobulin G (IgG). Case Report: The patient is a 20 years old male with a history of severe infections including pneumonia and sinusitis at 6th year, pneumonia at 15th year, elbow cellulitis at 16th year, leg cellulitis at 18th year and lung abscess at 19th year of life. He was symptom free from 6th year up to 15th year of life while was under treatment with weekly subcutaneous immunoglobulin and then monthly IVIG. He had normal growth during childhood and received routine immunization without any post-vaccination problem. His parents were not relatives but two of his maternal uncles had died at childhood with unknown reason. Serum IgG levels were always within normal limits. The IVIG treatment was not done at the regular monthly basis up to the last visit at 20 years of age. Conclusion: XLA patients may have normal serum IgG but it is prudent to be treated by monthly IVIG.