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Article

Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression.

British journal of haematology - 1 Oct 2002

Aricò Maurizio, Allen Michaela, Brusa Simona, Clementi Rita, Pende Daniela, Maccario Rita, Moretta Lorenzo, Danesino Cesare

Abstract excerpt

Haemophagocytic lymphohistiocytosis (HLH) is a rare, fatal disorder of early infancy. Mutations of the PRF1 gene have been identified in a subset of patients. However, the distinction between the different genetically determined and environmental subtypes of the disease remains a major issue to be solved. This may result in delayed or inappropriate application of bone marrow transplantation (BMT). We propose an...

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Source

Identifiers

PMID: 12358924
DOI: 10.1046/j.1365-2141.2002.03773.x

Genes

PRF1

Provenance

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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Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression.PMID 12358924Read ↗

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