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

• Главные авторы: Lingshuang Sheng (Автор), Wei Zhang (Автор), Jia Gu (Автор), Kefeng Shen (Автор), Hui Luo (Автор), Yang Yang (Автор)
• Формат: ‌
• Опубликовано: BMC, 2019-02-01T00:00:00Z.
• Предметы: article
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Abstract 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...