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Article

Previously undiagnosed fatal familial haemophagocytic lymphohistiocytosis in a 24-year-old woman.

BMJ case reports - 22 Feb 2016

Barmettler Sara, Nowak Richard J, Parker Terri, Price Christina

Abstract excerpt

We present a case of a 24-year-old woman with previously undiagnosed familial haemophagocytic lymphohistiocytosis (HLH). The patient presented with fevers and cough and was found to have pancytopaenia. She underwent an extensive work up and initially met only 3 of 8 criteria for HLH. Owing to high clinical suspicion, soluble CD25 level was sent and HLH2004 protocol initiated. The soluble CD25 level returned...

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Identifiers

PMID: 26903364
DOI: 10.1136/bcr-2015-213698
PMCID: PMC4769444

Genes

PRF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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