Associated Papers
Adult Onset of Type 2 Familial Hemophagocytic Lymphohistiocytosis After SARS-CoV-2 Vaccination with an Unusual Neurological Onset: The Great Mimic.
Bellisario F et al.
Diagnostics (basel, Switzerland), 2025
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 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
RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Shi Y et al.
Pharmacogenomics and Personalized Medicine, 2021
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.
Blincoe A et al.
Journal of Clinical Immunology, 2020
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
Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.
Gallo V et al.
Frontiers in Immunology, 2016
Monoallelic mutations of the perforin gene may represent a predisposing factor to childhood anaplastic large cell lymphoma.
Ciambotti B et al.
Journal of Pediatric Hematology/oncology, 2014
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
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
Zhang K et al.
Blood, 2011
Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer.
Chia J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
Trizzino A et al.
Journal of Medical Genetics, 2008
Germline mutations of the perforin gene are a frequent occurrence in childhood anaplastic large cell lymphoma.
Cannella S et al.
Cancer, 2007
Perforin-mediated target-cell death and immune homeostasis.
Voskoboinik I et al.
Nature Reviews. Immunology, 2006
Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease.
Marcenaro S et al.
Blood, 2006
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
Zur Stadt U et al.
Human Mutation, 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
A proportion of patients with lymphoma may harbor mutations of the perforin gene.
Clementi R 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
Atypical features of familial hemophagocytic lymphohistiocytosis.
Busiello R et al.
Blood, 2004
Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.
Ueda I et al.
British Journal of Haematology, 2003
Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.
Feldmann J et al.
British Journal of Haematology, 2002