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Article

Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection.

Clinical immunology (Orlando, Fla.) - 1 Aug 2014

Alsina L, Colobran R, de Sevilla M F, Català A, Viñas L, Ricart S, Plaza A M, Lois S, Juan M, Pujol-Borrell R, Martinez-Gallo M

Abstract excerpt

Familial Hemophagocytic Lymphohistiocytosis type 3 (FHL3) is a genetic disorder caused by mutations in UNC13D gene, coding the granule priming factor Munc13-4 that intervenes in NK and T cell cytotoxic function. Here we report the case of a 17-month-old girl with prolonged symptomatic EBV infectious mononucleosis and clinical symptoms of hemophagocytic syndrome. In vitro functional analysis pointed to a...

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Source

Identifiers

PMID: 24825797
DOI: 10.1016/j.clim.2014.04.019

Genes

FHL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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