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Article

Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G>A mutation.

The American journal of the medical sciences - 1 Nov 2023

Xin Xiangke, Wang Na, Zhang Yicheng

Abstract excerpt

Hemophagocytic lymphohistiocytosis(HLH) is a rare highly-fatal disease presenting with fever, hepatosplenomegaly, and pancytopenia and has a poor prognosis. Homozygous or semi-zygous or complex heterozygous variants can cause familial HLH and heterozygous carriers are frequently seen in secondary HLH. A 42-year-old male patient was admitted to the hospital for persistent fever, fatigue, and splenomegaly....

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Identifiers

PMID: 37467895
DOI: 10.1016/j.amjms.2023.07.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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