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Article

Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.

Blood - 15 Sept 2007

Bryceson Yenan T, Rudd Eva, Zheng Chengyun, Edner Josefine, Ma Daoxin, Wood Stephanie M, Bechensteen Anne Grete, Boelens Jaap J, Celkan Tiraje, Farah Roula A, Hultenby Kjell, Winiarski Jacek, Roche Paul A, Nordenskjöld Magnus, Henter Jan-Inge, Long Eric O, Ljunggren Hans-Gustaf

Abstract excerpt

Familial hemophagocytic lymphohistiocytosis (FHL) is typically an early onset, fatal disease characterized by a sepsislike illness with cytopenia, hepatosplenomegaly, and deficient lymphocyte cytotoxicity. Disease-causing mutations have been identified in genes encoding perforin (PRF1/FHL2), Munc...

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Identifiers

PMID: 17525286
DOI: 10.1182/blood-2007-02-074468
PMCID: PMC1976360

Genes

FHL2
FHL3
PRF1
STX11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17525286-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.PMID 17525286Read ↗

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Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11Semantic proximity Read ↗

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