GATA2 deficiency

Last revised by Craig Hacking on 20 Feb 2018

Citation, DOI, disclosures and article data

Citation:

Wanderley M, Hacking C, Bell D, et al. GATA2 deficiency. Reference article, Radiopaedia.org (Accessed on 16 Apr 2024) https://doi.org/10.53347/rID-58053

DOI:

https://doi.org/10.53347/rID-58053

Permalink:

https://radiopaedia.org/articles/58053

rID:

58053

Article created:

29 Jan 2018, Mark Wanderley ◉

Disclosures:

At the time the article was created Mark Wanderley had no recorded disclosures.

View Mark Wanderley's current disclosures

Last revised:

20 Feb 2018, Craig Hacking ◉ ◈

Disclosures:

At the time the article was last revised Craig Hacking had no recorded disclosures.

View Craig Hacking's current disclosures

Revisions:

6 times, by 6 contributors - see full revision history and disclosures

Systems:

Chest

Sections:

Syndromes

Tags:

pulmonary alveolar proteinosis

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.

Clinical presentation

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.

Pathology

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.