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Article

A platform for complementation and characterization of familial haemophagocytic lymphohistiocytosis 3 mutations.

Journal of immunological methods - 28 Feb 2011

Elstak Edo, de Jong Arjan, van der Sluijs Peter

Abstract excerpt

Mutations in UNC13D cause the severe immune disorder familial haemophagocytic lymphohistiocytosis type 3 (FHL3). The gene product munc13-4 is expressed in hematopoietic cells and is essential for degranulation. Little information is available on genotype-phenotype relationships of UNC13D mutations. Some mutants may have residual functionality which qualifies them as promising targets for attempts to enhance...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21182842
DOI: 10.1016/j.jim.2010.12.009

Genes

FHL3

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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