Associated Papers
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 2025
Immune Thrombocytopenia: Immune Dysregulation and Genetic Perturbations Deciphering the Fate of Platelets.
Tariq Z et al.
Frontiers in Bioscience (landmark Edition), 2024
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
Severe adult hemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants.
Bloch C et al.
The Journal of Allergy and Clinical Immunology, 2024
Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.
Zhunussova G et al.
Oncotarget, 2023
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Shi Y et al.
Pharmacogenomics and Personalized Medicine, 2021
Associations between PRF1 Ala91Val polymorphism and risk of hemophagocytic lymphohistiocytosis: a meta-analysis based on 1366 subjects.
Zhu GH et al.
World Journal of Pediatrics : Wjp, 2020
Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect.
Carvelli J et al.
Blood, 2020
Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants.
de Angelis de Carvalho N et al.
Cancers, 2020
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
Macrophage Activation Syndrome Versus Hemophagocytic Lymphohistiocytosis: A Diagnostic Dilemma in a Patient With Still's Disease and Epstein-Barr Virus Viremia.
Gomez R et al.
Journal of Hematology, 2019
Recurrent activating STAT5B N642H mutation in myeloid neoplasms with eosinophilia.
Cross NCP et al.
Leukemia, 2019
Perforin proteostasis is regulated through its C2 domain: supra-physiological cell death mediated by T431D-perforin.
Brennan AJ et al.
Cell Death and Differentiation, 2018
Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.
Shibata H et al.
Blood, 2018
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
Neuromyelitis optica, atypical hemophagocytic lymphohistiocytosis and heterozygous perforin A91V mutation.
Palterer B et al.
Journal of Neuroimmunology, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Melloni GEM et al.
Breast Cancer Research : Bcr, 2017
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Fang H et al.
Bmc Medical Genomics, 2017
Macrophage Activation Syndrome: different mechanisms leading to a one clinical syndrome.
Bracaglia C et al.
Pediatric Rheumatology Online Journal, 2017
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E et al.
Plos One, 2017
Comparative genomic analysis of primary tumors and metastases in breast cancer.
Bertucci F et al.
Oncotarget, 2016
Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.
Cetica V et al.
The Journal of Allergy and Clinical Immunology, 2016
Heterozygosity for the common perforin mutation, p.A91V, impairs the cytotoxicity of primary natural killer cells from healthy individuals.
House IG et al.
Immunology and Cell Biology, 2015
A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation.
Clemente N et al.
Genes and Immunity, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
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
Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.
Sieni E et al.
Frontiers in Immunology, 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
Human perforin mutations and susceptibility to multiple primary cancers.
Trapani JA et al.
Oncoimmunology, 2013
Molecular study of the perforin gene in familial hematological malignancies.
El Abed R et al.
Hereditary Cancer in Clinical Practice, 2011
Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.
Vastert SJ et al.
Rheumatology (oxford, England), 2010
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Variations of the perforin gene in patients with multiple sclerosis.
Cappellano G et al.
Genes and Immunity, 2008
Variations of the perforin gene in patients with type 1 diabetes.
Orilieri E et al.
Diabetes, 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
Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function.
Clementi R et al.
Blood, 2006
Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation.
Lee SM et al.
The Journal of Pediatrics, 2006
A91V perforin variation in healthy subjects and FHLH patients.
Busiello R et al.
International Journal of Immunogenetics, 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