Haemophagocytic lymphohistiocytosis caused by GATA2 deficiency: a report on three patients.
GATA2
Nontuberculous mycobacterium
EBV
Haemophagocytic lymphohistiocytosis
Myelodysplastic syndrome
Journal
BMC infectious diseases
ISSN: 1471-2334
Titre abrégé: BMC Infect Dis
Pays: England
ID NLM: 100968551
Informations de publication
Date de publication:
10 May 2024
10 May 2024
Historique:
received:
05
07
2023
accepted:
26
04
2024
medline:
11
5
2024
pubmed:
11
5
2024
entrez:
10
5
2024
Statut:
epublish
Résumé
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. 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. 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.
Sections du résumé
BACKGROUND
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
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
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.
Identifiants
pubmed: 38730328
doi: 10.1186/s12879-024-09356-3
pii: 10.1186/s12879-024-09356-3
doi:
Substances chimiques
GATA2 Transcription Factor
0
GATA2 protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
482Subventions
Organisme : National Natural Science Foundation of China
ID : 81901982
Organisme : National Natural Science Foundation of China
ID : 81871633
Organisme : Key Scientific Project for Capital's Health Development Research
ID : 2020-1-2022
Informations de copyright
© 2024. The Author(s).
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