In conclusion, the positive effects of AAT augmentation therapy observed in this case support the hypothesis of a proteinase-antiproteinase imbalance in the pathogenesis of asthma, reaffirming the need for further studies on the mechanisms of this bronchial disease and the efficacy of AAT augmentation therapy in selected AAT deficiency subjects with refractory asthma. The gene discussed is SERPINA1; the disease is asthma.