Pulmonary Alveolar Proteinosis and Pulmonary Hypertension

 

Pulmonary alveolar proteinosis and pulmonary hypertension occurs in approximately one-third of GATA2 deficiency patients.  These pulmonary changes seen in this disease likely reflect pulmonary alveolar macrophage dysfunction and defective transcriptional regulation of endothelial nitric oxide synthetase.   

GATA2 Deficiency