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

Autor:	Lin Wu, Jingshi Wang, Deli Song, Yahong You, Zhao Wang
Jazyk:	angličtina
Rok vydání:	2024
Předmět:	Haemophagocytic lymphohistiocytosis GATA2 EBV Nontuberculous mycobacterium Myelodysplastic syndrome Infectious and parasitic diseases RC109-216
Zdroj:	BMC Infectious Diseases, Vol 24, Iss 1, Pp 1-7 (2024)
Druh dokumentu:	article
ISSN:	1471-2334
DOI:	10.1186/s12879-024-09356-3
Popis:	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.
Databáze:	Directory of Open Access Journals
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