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Article

Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity.

International journal of hematology - 1 Mar 2020

Viñas-Giménez Laura, Donadeu Laura, Alsina Laia, Rincón Rafael, de la Campa Elena Álvarez, Esteve-Sole Ana, Català Albert, Colobran Roger, de la Cruz Xavier, Sayós Joan, Martínez-Gallo Mónica

Abstract excerpt

The presence of mutations in PRF1, UNC13D, STX11 and STXBP2 genes in homozygosis or compound heterozygosis results in immune deregulation. Most such cases lead to clinical manifestations of haemophagocytic lymphohistiocytosis (HLH). In the present study, we analyzed degranulation and cytotoxicity in a pediatric patient with a late presentation of HLH associated with Epstein-Barr virus infection. Remarkably, the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31865540
DOI: 10.1007/s12185-019-02796-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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