Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Ocular inflammation as the first presenting feature of PRF1-associated familial hemophagocytic lymphohistiocytosis, case report and review of literature.
Alzuabi AK et al.
Bmc Ophthalmology, 2025
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 2025
Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.
Hassaan HM et al.
American Journal of Medical Genetics. Part A, 2025
Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the PRF1 Gene.
Stadermann A et al.
International Journal of Molecular Sciences, 2024
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
The pore conformation of lymphocyte perforin.
Ivanova ME et al.
Science Advances, 2022
Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis.
Ahmari AA et al.
Blood Research, 2021
RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Shi Y et al.
Pharmacogenomics and Personalized Medicine, 2021
Familial Hemophagocytic Lymphohistiocytosis Secondary to PRF1 Mutation.
Alfaraidi AT et al.
Case Reports in Hematology, 2021
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis.
Lucchini G et al.
Blood, 2018
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.
Al-Herz W et al.
Frontiers in Immunology, 2018
Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.
Benezech S et al.
Clinical Case Reports, 2017
Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.
An O et al.
Protein Science : a Publication of the Protein Society, 2013
Perforin-mediated target-cell death and immune homeostasis.
Voskoboinik I et al.
Nature Reviews. Immunology, 2006
Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.
Risma KA et al.
The Journal of Clinical Investigation, 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
Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.
Molleran Lee S et al.
Journal of Medical Genetics, 2004