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Article

Development of classical Hodgkin's lymphoma in an adult with biallelic STXBP2 mutations.

Haematologica - 1 May 2013

Machaczka Maciej, Klimkowska Monika, Chiang Samuel C C, Meeths Marie, Müller Martha-Lena, Gustafsson Britt, Henter Jan-Inge, Bryceson Yenan T

Abstract excerpt

Experimental model systems have delineated an important role for cytotoxic lymphocytes in the immunosurveillance of cancer. In humans, perforin-deficiency has been associated with occurrence of hematologic malignancies. Here, we describe an Epstein-Barr virus-positive classical Hodgkin's lymphoma in a patient harboring biallelic mutations in STXBP2, a gene required for exocytosis of perforin-containing lytic...

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Source

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Identifiers

PMID: 23100279
DOI: 10.3324/haematol.2012.073098
PMCID: PMC3640121

Genes

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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