A rare genetic cause of bronchiectasis

Bronchiectasis, defined as an abnormal and irreversible dilatation of the bronchi, frequently associated with inflammation, is the most common complication of recurrent infections. Effective pulmonary immunity is necessary to prevent chronic bronchial damage due to bacterial infection. Primary immune deficiencies comprise a heterogeneous group of genetically determined disorders that affect development and/or the function of innate or adaptive immunity. In multiple series reported in literature, common variable immunodeficiency (CVID), X-linked agammaglobulinemia (XLA) and chronic granulomatous disease (CGD) were the most common forms of primary immune deficiencies (PIDs) associated with bronchiectasis (1,15). Despite advances in the molecular knowledge of PIDs during the past two decades, there are many undiagnosed or late diagnosed patients (6,14). We report a case of Bruton's disease late diagnosed, already with bronchiectasis, with an early onset of recurrent respiratory infections.