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Article

Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing.

Frontiers in immunology - 1 Jan 2018

Lopez Jamie A, Noori Tahereh, Minson Adrian, Li Jovanoska Lu, Thia Kevin, Hildebrand Michael S, Akhlaghi Hedieh, Darcy Phillip K, Kershaw Michael H, Brown Natasha J, Grigg Andrew, Trapani Joseph A, Voskoboinik Ilia

Abstract excerpt

The ability of cytotoxic lymphocytes (CL) to eliminate virus-infected or cancerous target cells through the granule exocytosis death pathway is critical to immune homeostasis. Congenital loss of CL function due to bi-allelic mutations in PRF1, UNC13D, STX11, or STXBP2 leads to a potentially fatal immune dysregulation, familial haemophagocytic lymphohistiocytosis (FHL). This occurs due to the failure of CLs to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytotoxicity, Immunologic

Share to Killer Cells, Natural

Share to Leukocytes, Mononuclear

Share to Munc18 Proteins

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Share to T-Lymphocytes, Cytotoxic

Source

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Identifiers

PMID: 29599780
DOI: 10.3389/fimmu.2018.00529
PMCID: PMC5862791

Genes

STXBP2
STX11
STXBP1
PRF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing.PMID 29599780Read ↗

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