Associated Papers
Molecular dynamics simulations of perforin mutations associated with familial hemophagocytic lymphohistiocytosis type 2 among Indian patients.
Narayan AB et al.
International Journal of Biological Macromolecules, 2025
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
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
Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.
Ju HY et al.
Cancers, 2022
35626111 (PubMed )
Supplement: cancers-14-02506-s001.zip › Supplementary_Tables.xlsx › Supplementary_Table_S2
RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Shi Y et al.
Pharmacogenomics and Personalized Medicine, 2021
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
Human perforin gene variation is geographically distributed.
Willenbring RC et al.
Molecular Genetics & Genomic Medicine, 2018
Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.
Benezech S et al.
Clinical Case Reports, 2017
Perforin-mediated target-cell death and immune homeostasis.
Voskoboinik I et al.
Nature Reviews. Immunology, 2006
A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis.
Voskoboinik I et al.
Blood, 2005
Review of hemophagocytic lymphohistiocytosis (HLH) in children with focus on Japanese experiences.
Ishii E et al.
Critical Reviews in Oncology/hematology, 2005
Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.
Ueda I et al.
British Journal of Haematology, 2003
Acute inflammatory demyelinating polyradiculoneuropathy associated with perforin-deficient familial haemophagocytic lymphohistiocytosis.
Del Giudice E et al.
Acta Paediatrica (oslo, Norway : 1992), 2003
[Familial hemophagocytic lymphohistiocytosis. Differential diagnosis with secondary hemophagocytic syndromes].
Boissy C et al.
Archives D'anatomie Et De Cytologie Pathologiques, 1997
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