X-Linked Agammaglobulinemia Leading to Chronic Obstructive Lung Disease.

X-linked agammaglobulinemia (XLA) is a rare primary immunodeficiency disorder. It occurs in around one in 200,000 live births and is caused by mutations in the Bruton Tyrosine Kinase (BTK) gene leading to B lymphocyte deficiency and increased susceptibility to infection. Infection is the most common initial clinical presentation, followed by family history and neutropenia. Even in patients with a positive family history, only 34% of patients were diagnosed before clinical symptoms arose. Over half of patients are diagnosed by two years of age. Treatment is aimed at replacing immunoglobulin using intravenous immunoglobulin (IVIG) or subcutaneous immunoglobulin (SCIG) and prophylactic antibiotics to prevent infections. Despite these therapies, patients still suffer from repetitive infections. Another significant source of morbidity in patients with XLA is a chronic lung disease. By the time of diagnosis, 62% of patients had at least one case of pneumonia. We describe the case of a patient who has developed an accelerated course of chronic obstructive pulmonary disease (COPD) secondary to pre-existing X-linked agammaglobulinemia and recurrent respiratory infections.