This is a preview of subscription content, access via your institution
Relevant articles
Open Access articles citing this article.
-
Disseminated nontuberculous mycobacteriosis and fungemia after second delivery in a patient with MonoMAC syndrome/GATA2 mutation: a case report
BMC Infectious Diseases Open Access 29 May 2021
-
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
Nature Communications Open Access 25 February 2020
-
Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood
BMC Pulmonary Medicine Open Access 10 February 2015
Access options
Subscribe to this journal
Receive 12 print issues and online access
$259.00 per year
only $21.58 per issue
Rent or buy this article
Prices vary by article type
from$1.95
to$39.95
Prices may be subject to local taxes which are calculated during checkout
References
Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet 2011; 43: 1012–1017.
Hsu AP, Sampaio EP, Khan J, Calvo KR, Lemieux JE, Patel SY et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood 2011; 118: 2653–2655.
Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M et al. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 2011; 118: 2656–2658.
Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ et al. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet 2011; 43: 929–931.
Bödör C, Renneville A, Smith M, Charazac A, Iqbal S, Etancelin P et al. Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival. Haematologica 2012; 97: 890–894.
Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J et al. Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood 2012; 119: 1283–1291.
Churpek JE, Lorenz R, Nedumgottil S, Onel K, Olopade O, Sorrell A et al. Proposal for the clinicaldetection and managment of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes. Leuk Lymphoma 2013; 54: 28–35.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no conflict of interest.
Rights and permissions
About this article
Cite this article
Mutsaers, P., van de Loosdrecht, A., Tawana, K. et al. Highly variable clinical manifestations in a large family with a novel GATA2 mutation. Leukemia 27, 2247–2248 (2013). https://doi.org/10.1038/leu.2013.105
Published:
Issue Date:
DOI: https://doi.org/10.1038/leu.2013.105
This article is cited by
-
Disseminated nontuberculous mycobacteriosis and fungemia after second delivery in a patient with MonoMAC syndrome/GATA2 mutation: a case report
BMC Infectious Diseases (2021)
-
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
Nature Communications (2020)
-
Heterogeneity of GATA2-related myeloid neoplasms
International Journal of Hematology (2017)
-
Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood
BMC Pulmonary Medicine (2015)