Patients with Alpha-1 antitrypsin Deficiency due to Null mutations have clinical peculiarities and should require personalized pulmonary management

Conclusions: Early detection of PI*Null/Null subject is desirable for preventive and therapeutic interventions. PI*Null/Null subjects have great benefit from early augmentation therapy.

Source: European Respiratory Journal - November 20, 2019 Category: Respiratory Medicine Authors: Ferrarotti, I., Ottaviani, S., Paracchini, E., Piloni, D., Mariani, F., Paone, G., Balderacchi, A. M., Barzon, V., Bosio, M., Kadija, Z., Balbi, B., Corsico, A. G. Tags: Molecular pathology and funct. genomics Source Type: research