A newly identified gain-of-function mutation in the STAT1 gene was associated with the development of bronchiectasis in a 17-year-old boy with a long history of persistent infections in the mouth and lungs. This case adds to previous studies reporting similar links between STAT1 gain-of-function mutations and bronchiectasis, supporting evidence that such mutations may increase the risk of developing the chronic airway condition. The patient also had high levels of a specific antibody called IgA, the clinicians found. Gain-of-function mutations are…

You must be logged in to read/download the full post.