Citation, DOI and article data
GATA2 deficiency is a germ-line disease expressed as a wide spectrum of phenotypes, including monocytopenia, myelodysplasia, myeloid leukaemias, and lymphedema. It is a rare cause of pulmonary alveolar proteinosis.
GATA2 deficiency has considerably variable clinical manifestations. It predisposes to myelodysplastic syndrome (MDS) / acute myelogenous leukemia (AML), congenital lymphedema and pulmonary alveolar proteinosis, and an immunodeficiency that renders the patient highly susceptible to viruses, especially human papillomavirus (HPV) and Epstein-Barr virus (EBV), and non-tuberculous mycobacteria.
GATA2 is a gene that codes for the transcription factor GATA2, vital for the proper functioning of hematopoietic stem cells and lymphangiogenesis (i.e. the creation of lymphatics). Heterozygous germ-line mutations are thought to arise spontaneously but are then transmitted by autosomal dominant inheritance.
- 1. Hsu AP, McReynolds LJ, Holland SM. GATA2 Deficiency. Current opinion in allergy and clinical immunology. 2015;15(1):104-9.
- 2. Griese M, Zarbock R, Costabel U, Hildebrandt J, Theegarten D, Albert M, et al. GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders. BMC Pulmonary Medicine. 2015;15:87.
- 3. Michael A. Spinner, Lauren A. Sanchez, Amy P. Hsu, Pamela A. Shaw, Christa S. Zerbe, Katherine R. Calvo, Diane C. Arthur, Wenjuan Gu, Christine M. Gould, Carmen C. Brewer, Edward W. Cowen, Alexandra F. Freeman, Kenneth N. Olivier, Gulbu Uzel, Adrian M. Zelazny, Janine R. Daub, Christine D. Spalding, Reginald J. Claypool, Neelam K. Giri, Blanche P. Alter, Emily M. Mace, Jordan S. Orange, Jennifer Cuellar-Rodriguez, Dennis D. Hickstein, Steven M. Holland. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. (2014) Blood. 123 (6): 809. doi:10.1182/blood-2013-07-515528 - Pubmed
- 4. Wlodarski MW, Collin M, Horwitz MS. GATA2 deficiency and related myeloid neoplasms. (2017) Seminars in hematology. 54 (2): 81-86. doi:10.1053/j.seminhematol.2017.05.002 - Pubmed