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Article

Perforin gene mutations in patients with acquired aplastic anemia.

Blood - 15 Jun 2007

Solomou Elena E, Gibellini Federica, Stewart Brian, Malide Daniela, Berg Maria, Visconte Valeria, Green Spencer, Childs Richard, Chanock Stephen J, Young Neal S

Abstract excerpt

Perforin is a cytolytic protein expressed mainly in activated cytotoxic lymphocytes and natural killer cells. Inherited perforin mutations account for 20% to 40% of familial hemophagocytic lymphohistiocytosis, a fatal disease of early childhood characterized by the absence of functional perforin. Aplastic anemia, the paradigm of immune-mediated bone marrow failure syndromes, is characterized by hematopoietic stem...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17311987
DOI: 10.1182/blood-2006-12-063495
PMCID: PMC1890825

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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