Associated Papers
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 2025
40090000 (PubMed )
Supplement: BLOOD_BLD-2024-027954-mmc2.xlsx › Suppl._table_1
Familial hemophagocytic phohistiocytosis induced by PRF1 mutation with neurologic manifestations as the initial clinical presentations: A case report.
You Y et al.
Medicine, 2023
Primary Hemophagocytic Lymphohistiocytosis With Prolonged Primary Neurologic Presentation.
Gupta J et al.
Pediatrics, 2023
Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis-the initial phenotype of PRF1 gene mutation.
Hu LY et al.
Frontiers in Immunology, 2023
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
Histopathologic Correlates of Familial Hemophagocytic Lymphohistiocytosis Isolated to the Central Nervous System.
Solomon IH et al.
Journal of Neuropathology and Experimental Neurology, 2018
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