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


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-year-old Chinese female patient who was diagnosed with chronic active Epstein-Barr virus infection more than 9?months prior and has since been presenting with cutaneous lymphoproliferative disorders mimicking hydroa vacciniforme and subsequent haemophagocytic lymphohistiocytosis. Exome sequencing suggested novel digenic heterozygous STXBP2 (c.592A?>?C, p.Thr198Pro) and LYST (c.830A?>?T, p.His277Leu) mutations. CONCLUSIONS:This is the first case report in which adult HLH was associated with novel digenic mutations of STXBP2 and LYST combined with Epstein-Barr virus infection. It could also be the first polygenic model report, given that the pathogenicity of other mutated genes still remains unclear. We additionally conducted an in-depth, two-generation pedigree analysis to further illustrate the mode of inheritance in this case.

SUBMITTER: Sheng L 

PROVIDER: S-EPMC6379998 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature

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

Sheng Lingshuang L   Zhang Wei W   Gu Jia J   Shen Kefeng K   Luo Hui H   Yang Yang Y  

BMC medical genetics 20190219 1


<h4>Background</h4>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.<h4>Case presentation</h4>We report a 30-year-old Chinese female patient who was diagnosed with chronic active Epstein-Barr virus infection more than 9 months prior and has since been presenting with cutaneous lymphoproliferative diso  ...[more]

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