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Article

Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets.

Frontiers in immunology - 1 Jan 2020

Galgano Donatella, Soheili Tayebeh, Voss Matthias, Torralba-Raga Lamberto, Tesi Bianca, Cichocki Frank, Andre Isabelle, Rettig Jens, Cavazzana Marina, Bryceson Yenan

Abstract excerpt

Autosomal recessive mutations in genes required for cytotoxicity are causative of a life-threatening, early-onset hyperinflammatory syndrome termed familial hemophagocytic lymphohistiocytosis (FHL). Mutations in UNC13D cause FHL type 3. UNC13D encodes Munc13-4, a member of the Unc13 protein family which control SNARE complex formation and vesicle fusion. We have previously identified FHL3-associated mutations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Lymphohistiocytosis, Hemophagocytic

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Source

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Identifiers

PMID: 32582217
DOI: 10.3389/fimmu.2020.01154
PMCID: PMC7296141

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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