Human hematopoiesis is critically dependent on the transcription factor GATA2. Patients with GATA2 deficiency typically present with myelodysplastic syndrome, reduced numbers of monocytes, NK cells and B cells, and/or opportunistic infections. Here, we present two families that harbor distinct GATA2 mutations with highly variable onset and course of disease. We discuss the use of allogeneic hematopoietic cell transplantation in these patients, especially as treatment for pulmonary alveolar proteinosis.

中文翻译：

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同种异体造血细胞移植治疗GATA2缺乏症和肺泡蛋白沉着症。

人的造血功能主要取决于转录因子GATA2。GATA2缺乏症患者通常会出现骨髓增生异常综合症，单核细胞，NK细胞和B细胞数量减少和/或机会性感染。在这里，我们介绍了两个家族，它们具有明显的GATA2突变，其发病和病程变化很大。我们讨论了在这些患者中同种异体造血细胞移植的用途，特别是作为肺泡蛋白沉着症的治疗方法。