%0 Case Reports
%T Haemophagocytic lymphohistiocytosis caused by GATA2 deficiency: a report on three patients.
%A Wu L
%A Wang J
%A Song D
%A You Y
%A Wang Z
%J BMC Infect Dis
%V 24
%N 1
%D 2024 May 10
%M 38730328
%F 3.667
%R 10.1186/s12879-024-09356-3
%X <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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.<BR><B>CONCLUSIONS: </B>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.