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Article

Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH.

Blood - 1 Jun 2017

Rubin Tamar S, Zhang Kejian, Gifford Carrie, Lane Adam, Choo Sharon, Bleesing Jack J, Marsh Rebecca A

Abstract excerpt

Primary hemophagocytic lymphohistiocytosis (HLH) can be caused by biallelic mutations in PRF1, encoding perforin, or UNC13D, STXBP2, STX11, RAB27A, LYST, and AP3B1, encoding proteins involved in cytotoxic lymphocyte degranulation. Natural killer (NK)-cell cytotoxicity assays can quickly screen for all of these genetic diseases, facilitating treatment, but combining NK-cell perforin expression and CD107a...

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Topics

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Share to Cell Degranulation
Share to Cytotoxicity Tests, Immunologic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Flow Cytometry

Share to Killer Cells, Natural

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Share to Lymphohistiocytosis, Hemophagocytic

Share to Lysosomal-Associated Membrane Protein 1

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Source

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Identifiers

PMID: 28270454
DOI: 10.1182/blood-2016-12-753830
PMCID: PMC5766842

Genes

LYST
PRF1
STX11
STXBP2

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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