Early diagnosis of Bruton´s disease: the importance of an adequate medical and family history

Bruton’s disease or X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by severe hypogammaglobulinemia. This causes increased susceptibility to bacterial recurrent infections at young age. It is very important, but difficult, to establish a diagnosis based on suspicion because of the common clinical symptoms of this rare disease. Once XLA is suspected, it is very important to refer the patient to a specialized hospital for specific analysis to confirm the disease. First, a blood analysis is done to see if antibody levels are low. In that case, a fluorocytometric analysis is needed to study the antibody classes. Genetic analysis shows mutation of BTK gene resulting in defective B cell differentiation and it must be done for diagnosis certainty. Treatment is based on intravenous immunoglobulin administration for life. We report a case in which a good clinical history was the key for an early diagnosis and treatment of a patient with Bruton´s disease before any potential complications appeared.