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Haematopoietic and immune defects associated with GATA2 mutation

Lookup NU author(s): Professor Matthew CollinORCiD, Dr Rachel Dickinson, Dr Venetia BigleyORCiD



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Heterozygous familial or sporadic GATA2 mutations cause a multifaceted disorder, encompassing susceptibility to infection, pulmonary dysfunction, autoimmunity, lymphoedema and malignancy. Although often healthy in childhood, carriers of defective GATA2 alleles develop progressive loss of mononuclear cells (dendritic cells, monocytes, B and Natural Killer lymphocytes), elevated FLT3 ligand, and a 90% risk of clinical complications, including progression to myelodysplastic syndrome (MDS) by 60years of age. Premature death may occur from childhood due to infection, pulmonary dysfunction, solid malignancy and MDS/acute myeloid leukaemia. GATA2 mutations include frameshifts, amino acid substitutions, insertions and deletions scattered throughout the gene but concentrated in the region encoding the two zinc finger domains. Mutations appear to cause haplo-insufficiency, which is known to impair haematopoietic stem cell survival in animal models. Management includes genetic counselling, prevention of infection, cancer surveillance, haematopoietic monitoring and, ultimately, stem cell transplantation upon the development of MDS or another life-threatening complication.

Publication metadata

Author(s): Collin M, Dickinson R, Bigley V

Publication type: Review

Publication status: Published

Journal: British Journal Of Haematology

Year: 2015

Volume: 169

Issue: 2

Pages: 173-187

Print publication date: 01/04/2015

Online publication date: 23/02/2015

ISSN (print): 0007-1048

ISSN (electronic): 1365-2141



DOI: 10.1111/bjh.13317