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Article

Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11.

Blood - 24 Jan 2013

Sepulveda Fernando E, Debeurme Franck, Ménasché Gaël, Kurowska Mathieu, Côte Marjorie, Pachlopnik Schmid Jana, Fischer Alain, de Saint Basile Geneviève

Abstract excerpt

Inherited defects of granule-dependent cytotoxicity led to the life-threatening immune disorder hemophagocytic lymphohistiocytosis (HLH), characterized by uncontrolled CD8 T-cell and macrophage activation. In a cohort of HLH patients with genetic abnormalities expected to result in the complete absence of perforin, Rab27a, or syntaxin-11, we found that disease severity as determined by age at HLH onset differed...

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Topics

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Share to Cell Degranulation
Share to Cytotoxicity, Immunologic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lymphocytic choriomeningitis virus

Share to Lymphohistiocytosis, Hemophagocytic

Share to Pore Forming Cytotoxic Proteins

Share to Qa-SNARE Proteins

Share to rab GTP-Binding Proteins

Share to T-Lymphocytes, Cytotoxic

Source

Open in PubMed Open full text

Identifiers

PMID: 23160464
DOI: 10.1182/blood-2012-07-440339
PMCID: PMC3824285

Genes

PRF1
STX11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11.PMID 23160464Read ↗

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