GATA2 deficiency is a germline illness that results in a variety of phenotypes such as viral and bacterial infections, cytopenias, myelodysplasia, myeloid leukemias, pulmonary alveolar proteinosis, and lymphedema. Clinical manifestations range in age from early childhood to late adulthood, with the majority appearing between puberty and early adulthood. The increasing GATA2-deficient phenotype, illness molecular genetics, and therapeutic advances are discussed. GATA2 mutations have been discovered in up to 10% of people with congenital neutropenia and/or aplastic anemia. Heterozygous mutations appear to produce haploinsufficiency via protein malfunction or uniallelic decreased transcription. GATA2 regulation is important, as evidenced by disease-associated mutations in intronic regulatory regions or changes within the 5′ leader exons. GATA2 mutations increase the risk of myelodysplasia, cytogenetic abnormalities, acute myeloid leukemia, and chronic myelomonocytic leukemia. Both hematopoietic and pulmonary alveolar proteinosis healing have been effective with bone marrow transplantation.
GATA2 is a zinc finger transcription factor that is required for embryonic and terminal hematopoiesis, as well as lymphatic angiogenesis. GATA2 deficiency is caused by a number of mutations in the GATA2 gene and can manifest in a variety of ways, including presentation, start, and prognosis. Patients are vulnerable to mycobacterial, viral, and fungal infections, which can lead to myelodysplasia, acute or chronic leukemias, lymphedema, and pulmonary alveolar proteinosis. Most clinical phenotypes may be reversed with hematopoietic stem cell transplantation, and the long-term results are favorable.
Reference:https://journals.lww.com/co-allergy/Abstract/2015/02000/GATA2_deficiency.15.aspx
