Department of Hematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, 00165, Rome, Italy.
Best Pract Res Clin Haematol. 2021 Jun;34(2):101278. doi: 10.1016/j.beha.2021.101278. Epub 2021 Jun 17.
GATA2 gene encodes a zinc finger transcription factor crucial for normal hematopoiesis. Its haploinsufficiency, caused by a great variety of heterozygous loss-of-function mutations, underlies one of the most common causes of inherited bone marrow failure, recognized as GATA2 deficiency. Its phenotype is characterized by a broad spectrum of clinical presentations, including: haematological malignancies; immunodeficiency leading to invasive viral, mycobacterial and fungal infections; recurrent warts; lymphedema; pulmonary alveolar proteinosis; deafness; and miscarriage. The onset of symptoms ranges from early childhood to late adulthood, more frequently between adolescence and early adulthood. The only curative treatment is allogenic hematopoietic stem cell transplantation (HSCT), that can restore the function of both hematopoietic and immune system and prevent lung deterioration. Currently, there are no consensus guidelines about the management of patients affected by GATA2 deficiency, especially with regard to the optimal time to proceed to HSCT.
GATA2 基因编码一种锌指转录因子，对于正常造血至关重要。其杂合功能丧失突变导致的部分失活，是最常见的遗传性骨髓衰竭原因之一，被称为 GATA2 缺陷。其表型具有广泛的临床表现，包括：血液系统恶性肿瘤；免疫缺陷导致侵袭性病毒、分枝杆菌和真菌感染；复发性疣；淋巴水肿；肺泡蛋白沉积症；耳聋；和流产。症状发作从儿童期到成年期不等，更常见于青少年和成年早期。唯一的治愈方法是同种异体造血干细胞移植（HSCT），它可以恢复造血和免疫系统的功能，并防止肺部恶化。目前，对于 GATA2 缺陷患者的管理尚无共识指南，特别是关于进行 HSCT 的最佳时间。
