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

BMC Infect Dis. 2024 May 10;24(1):482. doi: 10.1186/s12879-024-09356-3.

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.

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.

Keywords: GATA2; Nontuberculous mycobacterium; EBV; Haemophagocytic lymphohistiocytosis; Myelodysplastic syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Epstein-Barr Virus Infections / complications
  • Female
  • GATA2 Deficiency* / complications
  • GATA2 Deficiency* / genetics
  • GATA2 Transcription Factor* / deficiency
  • GATA2 Transcription Factor* / genetics
  • Humans
  • Lymphohistiocytosis, Hemophagocytic* / genetics
  • Male

Substances

  • GATA2 Transcription Factor
  • GATA2 protein, human