Raffáč Štefan, Aljubouri Mundher Abdulkareem Salman, Gabzdilová Juliana
Department of Clinical Immunology, L. Pasteur University Hospital, Kosice, Slovakia.
Department of Internal medicine, Medical faculty P.J. Safarik University and L. Pasteur University Hospital, Kosice, Slovakia.
Neuro Endocrinol Lett. 2021 Jan;41(6):290-295.
The authors describe a case of a rare disorder associated with GATA 2 deficiency, which is an important hematopoietic transcription factor for the development of monocytes. The clinical hallmarks of GATA2 deficiency include monocytopenia, cellular immunodeficiency with a resultant marked susceptibility to infections (mycobacterial, fungal, and viral), predisposition to myelodysplasia, alveolar proteinosis of the lungs and congenital lymphoedema. These features overlap with other genetic and acquired syndromes. It is therefore important to establish a genetic diagnosis early. The only known curative treatment is hematopoietic stem cell transplantation and is integral to the appropriate management of these patients.
作者描述了一例与GATA 2缺乏相关的罕见疾病病例，GATA 2是单核细胞发育过程中一种重要的造血转录因子。GATA 2缺乏的临床特征包括单核细胞减少、细胞免疫缺陷，进而导致对感染（分枝杆菌、真菌和病毒）的显著易感性、骨髓发育异常倾向、肺泡蛋白沉积症和先天性淋巴水肿。这些特征与其他遗传和后天性综合征有重叠。因此，早期进行基因诊断很重要。唯一已知的治愈性治疗方法是造血干细胞移植，这对这些患者的恰当管理至关重要。
