PDF(Pubmed)
Abstract：
BACKGROUND: Haemophagocytic lymphohistiocytosis (HLH) is a syndrome that occurs in patients with severe systemic hyperinflammation. GATA binding protein 2 (GATA2) is a transcription factor and key component in haematopoiesis and stem cell biology.
METHODS: Three patients with HLH, one with Mycobacterium avium infection, one with Epstein-Barr virus (EBV) infection, and one with Mycobacterium kansasii infection, were all subsequently found to have a defect in the GATA2 gene through genetic testing.
CONCLUSIONS: GATA2 deficiency syndrome should be considered in patients with myelodysplastic syndrome, nontuberculous mycobacterium infection and HLH. In addition, the GATA2 gene variant may be a genetic defect that could be the cause of the primary HLH. However, further studies are needed to confirm the role of GATA2 pathogenic variants in the pathogenesis of HLH.
METHODS: Three patients with HLH, one with Mycobacterium avium infection, one with Epstein-Barr virus (EBV) infection, and one with Mycobacterium kansasii infection, were all subsequently found to have a defect in the GATA2 gene through genetic testing.
CONCLUSIONS: GATA2 deficiency syndrome should be considered in patients with myelodysplastic syndrome, nontuberculous mycobacterium infection and HLH. In addition, the GATA2 gene variant may be a genetic defect that could be the cause of the primary HLH. However, further studies are needed to confirm the role of GATA2 pathogenic variants in the pathogenesis of HLH.
摘要：
背景：噬血细胞性淋巴组织细胞增生症（HLH）是一种发生在严重全身性炎症患者中的综合征。GATA结合蛋白2（GATA2）是造血和干细胞生物学中的转录因子和关键成分。
方法：三例HLH患者，一个是鸟分枝杆菌感染，一个是EB病毒（EBV）感染，还有一个感染了Kansasii分枝杆菌,随后通过基因检测发现GATA2基因存在缺陷。
结论：骨髓增生异常综合征患者应考虑GATA2缺乏综合征，非结核分枝杆菌感染和HLH。此外,GATA2基因变异可能是一种遗传缺陷，可能是原发性HLH的原因。然而,需要进一步的研究来证实GATA2致病变异体在HLH发病机制中的作用。
方法：三例HLH患者，一个是鸟分枝杆菌感染，一个是EB病毒（EBV）感染，还有一个感染了Kansasii分枝杆菌,随后通过基因检测发现GATA2基因存在缺陷。
结论：骨髓增生异常综合征患者应考虑GATA2缺乏综合征，非结核分枝杆菌感染和HLH。此外,GATA2基因变异可能是一种遗传缺陷，可能是原发性HLH的原因。然而,需要进一步的研究来证实GATA2致病变异体在HLH发病机制中的作用。
