X-linked agammaglobulinemia, a case report

Introduction: X-linked agammaglobulinemia is a primary immunodeficiency caused by mutations in the Bruton tyrosine kinase gene, predominantly affecting males. It is characterized by the absence of B lymphocytes and extremely low levels of serum immunoglobulins. This leads to vulnerability to recurrent bacterial infections starting at six months of age, following the loss of maternal antibodies.Case Presentation: A fourteen-month-old infant presented with fever, respiratory distress, and a history of otitis, pneumonia, and gastroenteritis since seven months of age. Physical examination revealed the absence of tonsillar tissue and palpable lymph nodes. Studies confirmed nearly undetectable immunoglobulins (IgG: 45 mg/dL, IgA: < 5 mg/dL, IgM: < 5 mg/dL, IgE: Indetectable) and a virtual absence of B lymphocytes. Genetic sequencing detected a mutation in the Bruton tyrosine kinase gene. The patient began lifelong immunoglobulin replacement therapy.Conclusions: Early diagnosis through medical history and physical examination is crucial to avoid serious complications. Although treatment improves quality of life, the risk of chronic lung damage persists.