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

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

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 <...

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Bibliographic Details
Main Authors: Alina Stadermann, Markus Haar, Armin Riecke, Thomas Mayer, Christian Neumann, Arthur Bauer, Ansgar Schulz, Kumar Nagarathinam, Niklas Gebauer, Svea Böhm, Miriam Groß, Michael Grunert, Matthias Müller, Hanno Witte
Format: Article
Language:English
Published: MDPI AG 2024-02-01
Series:International Journal of Molecular Sciences
Subjects:
primary HLH
PRF1 gene
compound heterozygosity
Online Access:https://www.mdpi.com/1422-0067/25/5/2762

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https://www.mdpi.com/1422-0067/25/5/2762

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