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Article

Perforin gene mutation in familial haemophagocytic lymphohistiocytosis: the first reported case from Hong Kong.

Hong Kong medical journal = Xianggang yi xue za zhi - 1 Aug 2014

Chiang Grace P K, Li C K, Lee Vincent, Cheng Frankie W T, Leung Alex W K, Imashuku Shinsaku, Imamura Toshihiko, Shing Matthew M K

Abstract excerpt

Familial haemophagocytic lymphohistiocytosis is a rare but invariably fatal disease without haematopoietic stem cell transplantation. Genetic defect identification is useful for confirming a clinical diagnosis, predicting the risk of future recurrence, and defining haemophagocytic lymphohistiocytosis predisposition in asymptomatic family members. Notably, familial haemophagocytic lymphohistiocytosis type 2...

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Identifiers

PMID: 25104007
DOI: 10.12809/hkmj134041

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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