GATA2 deficiency
Updates to Article Attributes
GATA2 deficiency is a germ-line disease expressed as a wide spectrum of phenotypes, including monocytopenia, myelodysplasia, myeloid leukaemias, and lymphoedema. 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 leukaemia (AML), congenital lymphoedema 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 haematopoietic 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.
-<p><strong>GATA2 deficiency </strong>is a germ-line disease expressed as a wide spectrum of phenotypes, including monocytopenia, myelodysplasia, myeloid leukaemias, and lymphoedema. It is a rare cause of <a title="Pulmonary alveolar proteinosis" href="/articles/pulmonary-alveolar-proteinosis">pulmonary alveolar proteinosis</a>.</p><h4>Clinical presentation</h4><p>GATA2 deficiency has considerably variable clinical manifestations. It predisposes to <a href="/articles/myelodysplastic-syndrome">myelodysplastic syndrome</a> (MDS) / acute myelogenous leukaemia (AML), <a href="/articles/chronic-hereditary-lymphedema">congenital lymphoedema</a> 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 <a href="/articles/pulmonary-non-tuberculous-mycobacterial-infection-3">non-tuberculous mycobacteria</a>.</p><h4>Pathology</h4><p><em>GATA2</em> is a gene that codes for the transcription factor GATA2, vital for the proper functioning of haematopoietic 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.</p>- +<p><strong>GATA2 deficiency </strong>is a germ-line disease expressed as a wide spectrum of phenotypes, including monocytopenia, myelodysplasia, myeloid leukaemias, and lymphoedema. It is a rare cause of <a href="/articles/pulmonary-alveolar-proteinosis">pulmonary alveolar proteinosis</a>.</p><h4>Clinical presentation</h4><p>GATA2 deficiency has considerably variable clinical manifestations. It predisposes to <a href="/articles/myelodysplastic-syndrome">myelodysplastic syndrome</a> (MDS) / acute myelogenous leukaemia (AML), <a href="/articles/chronic-hereditary-lymphedema">congenital lymphoedema</a> 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 <a href="/articles/pulmonary-non-tuberculous-mycobacterial-infection-3">non-tuberculous mycobacteria</a>.</p><h4>Pathology</h4><p><em>GATA2</em> is a gene that codes for the transcription factor GATA2, vital for the proper functioning of haematopoietic 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.</p>
Sections changed:
Unable to process the form. Check for errors and try again.