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Article

Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing.

American journal of medical genetics. Part A - 15 Mar 2003

McCormick James, Flower Darren R, Strobel Stephan, Wallace Diana L, Beverley Peter C L, Tchilian Elma Z

Abstract excerpt

Hemophagocytic lymphohistiocytosis (HLH) composes a group of rare heterogenous disorders characterized by uncontrolled accumulation and infiltration of activated T lymphocytes and macrophages. Cytotoxic T and natural killer cell activity is significantly reduced or absent in these patients. Mutations in the important mediator of lymphocyte cytotoxicity perforin were identified in a number of HLH individuals. Here...

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Source

Identifiers

PMID: 12599189
DOI: 10.1002/ajmg.a.10010

Genes

PTPRC

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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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