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J. Pediatr. Hematol. Oncol. · May 2018
Review Case ReportsGATA2 Deficiency Due to de Novo Complete Monoallelic Deletion in an Adolescent With Myelodysplasia.
- Donald C Vinh, Laura Palma, John Storring, and William D Foulkes.
- Infectious Disease Susceptibility Research Program.
- J. Pediatr. Hematol. Oncol. 2018 May 1; 40 (4): e225-e228.
AbstractGATA2 deficiency is an inherited bone marrow failure syndrome that can manifest with myelodysplasia (myelodysplastic syndrome) with chromosomal aberrations and high risk of evolution to leukemia (particularly, acute myeloid leukemia); immunodeficiency with opportunistic infections; and/or lymphedema. It can be transmitted in families in autosomal-dominant fashion, or present de novo as sporadic disease in adults or children. The authors report a case of an adolescent male with features of GATA2 deficiency resulting from a complete monoallelic deletion, review chromosomal anomalies associated with this disorder, and discuss the management implications.
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