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Article

Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the PRF1 Gene.

International journal of molecular sciences - 27 Feb 2024

Stadermann Alina, Haar Markus, Riecke Armin, Mayer Thomas, Neumann Christian, Bauer Arthur, Schulz Ansgar, Nagarathinam Kumar, Gebauer Niklas, Böhm Svea, Groß Miriam, Grunert Michael, Müller Matthias, Witte Hanno

Abstract excerpt

Hemophagocytic lymphohistiocytosis (HLH) is a rare but in most cases life-threatening immune-mediated disease of the hematopoietic system frequently associated with hematologic neoplasms. Here, we report on a case in which we detected a novel constellation of two missense variants affecting the PRF1 gene, leading to de novo primary HLH. Diagnostics included a comprehensive clinical work-up and standard methods of...

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Identifiers

PMID: 38474010
DOI: 10.3390/ijms25052762
PMCID: PMC10931657

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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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