Affiliation:
1. Capital Medical University
Abstract
Abstract
Background
Hemophagocytic lymphohistiocytosis (HLH) is a syndrome describing patients with severe systemic hyperinflammation. GATA binding protein 2 (GATA 2) is a transcription factor and key component in hematopoiesis and stem cell biology.
Case presentation:
Three patients with HLH, one with Mycobacterium avium, one with EBV infection, and one with Mycobacterium Kansas, all of which were subsequently found to be defective in the GATA2 gene by genetic testing.
Conclusions
GATA2 gene deficiency syndrome should be considered if the patient has myelodysplastic syndrome, non-tuberculous mycobacterium infection and HLH. In addition, the GATA2 gene mutation may be a gene defect other than the current primary HLH gene that can cause HLH. Further studies are needed to confirm the role of GATA2 gene defects in the pathogenesis of HLH.
Publisher
Research Square Platform LLC
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