id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-289690-af6lsj1g	Svobodova, Tamara	Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood	2015-02-10		.txt	text/plain	3546	211	39	BACKGROUND: GATA-2 transcription factor deficiency has recently been described in patients with a propensity towards myeloid malignancy associated with other highly variable phenotypic features: chronic leukocytopenias (dendritic cell-, monocyto-, granulocyto-, lymphocytopenia), increased susceptibility to infections, lymphatic vasculature abnormalities, and sensorineural deafness. CONCLUSION: We conclude that a diagnosis of GATA-2 deficiency should be considered in all patients with diffuse parenchymal lung disease presenting together with leukocytopenia, namely monocyto-, dendritic celland B-lymphopenia, irrespective of severity of the clinical phenotype. Defects of transcription factor GATA-2 have recently been identified in a few overlapping phenotypes associated with myeloid malignancies: dendritic cell, monocyte, B-and NK-cell deficiency; MonoMAC syndrome (monocytopenia with Mycobacterium avium complex infections); Emberger syndrome (early onset primary lymphedema, multiple warts, sensorineural deafness, dysmorphism); and familial MDS/AML with no additional known phenotype. We present an adolescent male with GATA-2 deficiency and early manifestation of diffuse parenchymal lung disease (DPLD) as well as an atypical course of Epstein-Barr virus (EBV) infection.	./cache/cord-289690-af6lsj1g.txt	./txt/cord-289690-af6lsj1g.txt