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Article

A novel pathogenic variant in PRF1 associated with hemophagocytic lymphohistiocytosis.

Journal of clinical immunology - 1 Jul 2015

Romero Camilo Andrés Pérez, Sánchez Isaura Pilar, Gutierrez-Hincapié Sebastian, Álvarez-Álvarez Jesús A, Pereañez Jaime Andres, Ochoa Rodrigo, Muskus-López Carlos Enrique, Eraso Ruth G, Echeverry Carolina, Arango Catalina, Restrepo José Luis Franco, Trujillo-Vargas Claudia Milena

Abstract excerpt

Familial Hemophagocytic Lymphohistiocytosis type 2 (FHL2) results from mutations in PRF1. We described two unrelated individuals who presented with FHL, in whom severely impaired NK cytotoxicity and decrease perforin expression was observed. DNA sequencing of PRF1 demonstrated that both were not only heterozygous for the p.54R > C/91A > V haplotype but also presented with the novel variant p.47G > V at the...

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Share to Perforin
Share to Lymphohistiocytosis, Hemophagocytic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Killer Cells, Natural

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Source

Identifiers

PMID: 25975970
DOI: 10.1007/s10875-015-0169-x

Genes

PRF1
FHL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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