Vinh Donald C, Palma Laura, Storring John, Foulkes William D
Infectious Disease Susceptibility Research Program.
Department of Human Genetics, McGill University.
J Pediatr Hematol Oncol. 2018 May;40(4):e225-e228. doi: 10.1097/MPH.0000000000001136.
GATA2 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.
GATA2缺乏症是一种遗传性骨髓衰竭综合征，可表现为伴有染色体畸变的骨髓发育异常（骨髓增生异常综合征）以及发展为白血病（尤其是急性髓系白血病）的高风险；伴有机会性感染的免疫缺陷；和/或淋巴水肿。它可以以常染色体显性方式在家族中遗传，或作为成人或儿童的散发性疾病从头出现。作者报告了一例因完全单等位基因缺失导致具有GATA2缺乏症特征的青少年男性病例，回顾了与该疾病相关的染色体异常，并讨论了管理方面的影响。
