Haemophagocytic lymphohistiocytosis caused by GATA2 deficiency: a report on three patients

被引：1

作者：

Wu, Lin ^{[1
]}

Wang, Jingshi ^{[1
]}

Song, Deli ^{[1
]}

You, Yahong ^{[1
]}

Wang, Zhao ^{[1
]}

机构：

[1] Capital Med Univ, Beijing Friendship Hosp, Dept Haematol, 95 Yongan Rd, Beijing, Peoples R China

来源：

BMC INFECTIOUS DISEASES | 2024年 / 24卷 / 01期

基金：

中国国家自然科学基金;

关键词：

Haemophagocytic lymphohistiocytosis; GATA2; EBV; Nontuberculous mycobacterium; Myelodysplastic syndrome; MUTATIONS; DIAGNOSIS;

D O I：

10.1186/s12879-024-09356-3

中图分类号：

R51 [传染病];

学科分类号：

100401 ;

摘要：

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. Case presentation 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.

引用

页数：7

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