Alveolar Proteinosis, Infectious Complications and Monocytopenia Associated with GATA2 Deficiency.

The authors describe a case of a rare disorder associated with GATA 2 deficiency, which is an important hematopoietic transcription factor for the development of monocytes. The clinical hallmarks of GATA2 deficiency include monocytopenia, cellular immunodeficiency with a resultant marked susceptibility to infections (mycobacterial, fungal, and viral), predisposition to myelodysplasia, alveolar proteinosis of the lungs and congenital lymphoedema. These features overlap with other genetic and acquired syndromes.