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Article

Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis.

Blood - 21 Aug 2014

Zhang Kejian, Chandrakasan Shanmuganathan, Chapman Heather, Valencia C Alexander, Husami Ammar, Kissell Diane, Johnson Judith A, Filipovich Alexandra H

Abstract excerpt

Several molecules (LYST, AP3, RAB27A, STX11, STXBP2, MUNC13-4, and PRF1) have been associated with the function of cytotoxic lymphocytes. Biallelic defects in all of these molecules have been associated with familial hemophagocytic lymphohistiocytosis (FHL). We retrospectively reviewed the genetic and immunology test results from 2701 patients with a clinically suspected diagnosis of hemophagocytic...

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Share to Cell Degranulation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lymphocytes

Share to Lymphohistiocytosis, Hemophagocytic

Share to Lysosomal-Associated Membrane Protein 1

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Share to Pore Forming Cytotoxic Proteins

Source

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Identifiers

PMID: 24916509
DOI: 10.1182/blood-2014-05-573105
PMCID: PMC4141517

Genes

PRF1
LYST
STX11
STXBP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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