Vila Andrea, Dapás Juan I, Rivero Cynthia V, Bocanegra Florencia, Furnari Roberto F, Hsu Amy P, Holland Steven M
Department of Infectious Diseases, Hospital Italiano de Mendoza, Avenida Acceso Este 1070, San José, Mendoza, Argentina.
Department of Infectious Diseases, Hospital Italiano de Mendoza, Avenida Acceso Este 1070, San José, Mendoza, Argentina.
Int J Infect Dis. 2017 Jan;54:89-91. doi: 10.1016/j.ijid.2016.11.408. Epub 2016 Nov 25.
GATA2 deficiency is a genetic disorder caused by inherited or sporadic haploinsufficient mutations in the GATA2 gene. Patients have abnormalities in hematopoiesis, lymphangiogenesis and immunity; encompassing a broad range of clinical syndromes, mainly characterized by monocytopenia, B and NK cell cytopenia, severe or recurrent infections, and a high risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). We report a case of an Argentinean woman who presented with multiple opportunistic infections as her first manifestation of GATA2 deficiency.
GATA2缺陷是一种由GATA2基因的遗传性或散发性单倍体不足突变引起的遗传性疾病。患者在造血、淋巴管生成和免疫方面存在异常；涵盖广泛的临床综合征，主要特征为单核细胞减少、B细胞和NK细胞减少、严重或反复感染，以及发生骨髓增生异常综合征（MDS）和急性髓系白血病（AML）的高风险。我们报告一例阿根廷女性病例，该患者以多种机会性感染作为GATA2缺陷的首发表现。
