id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-001740-1px4aq89	Griese, Matthias	GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders	2015-08-12		.txt	text/plain	3412	220	47	title: GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders CONCLUSIONS: In children and adults with severe GM-CSF negative PAP a close cooperation between pneumologists and hemato-oncologists is needed to diagnose the underlying diseases, some of which are caused by mutations of transcription factor GATA2. Pulmonary alveolar proteinosis (PAP) is a rare disorder characterized by the progressive accumulation of surfactant in the alveoli of the lungs, leading to hypoxemic respiratory failure and, in severe cases, to death [1]. PAP is caused by (i) genetic diseases which result in dysfunction of surfactant or surfactant production (SFTPC, SFTPB, ABCA3, TTF1 deficiency) mainly presenting during infancy, by (ii) disruption of GM-CSF signaling from mutations in the receptor (GM-CSFRa, GM-CSFRb) or from acquired autoantibodies against GM-CSF, and by (iii) disorders that presumably impair surfactant clearance because of abnormal numbers or defective phagocytic functions of alveolar macrophages [2] .	./cache/cord-001740-1px4aq89.txt	./txt/cord-001740-1px4aq89.txt