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. It is therefore important to establish a genetic diagnosis early. The only known curative treatment is hematopoietic stem cell transplantation and is integral to the appropriate management of these patients.