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

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Veröffentlicht in:	International journal of molecular sciences 2024-02, Vol.25 (5), p.2762
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Biopsy Blood cancer Bone marrow Case Report Cytomegalovirus Datasets Fever Flow cytometry Immune system Immunology Lymphocytes Lymphoma Mutation Tomography Triglycerides
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