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Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report

BACKGROUND: Haemophagocytic lymphohistiocytosis is a life-threatening disease resulting from primary or secondary hyper-inflammatory disorders. The typical symptoms include persistent fever, splenomegaly, cytopenia and significant elevation of serum ferritin. CASE PRESENTATION: We report a 30-year-o...

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Bibliographische Detailangaben
Veröffentlicht in:BMC Med Genet
Hauptverfasser: Sheng, Lingshuang, Zhang, Wei, Gu, Jia, Shen, Kefeng, Luo, Hui, Yang, Yang
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2019
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6379998/
https://ncbi.nlm.nih.gov/pubmed/30782130
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0765-3
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