Associated Papers
Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.
Voss RK et al.
Leukemia, 2025
A Nationwide Analysis of the Phenotype/Genotype Landscape of Hemophagocytic Lymphohistiocytosis: UNC13D Associates with Poor Prognosis.
Brik Simon D et al.
Genes, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 2025
Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review.
Sharma S et al.
Journal of Clinical Immunology, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Hemophagocytic Lymphohistiocytosis Gene Variants in Severe Aplastic Anemia and Their Impact on Hematopoietic Cell Transplantation Outcomes.
Rafati M et al.
Transplantation and Cellular Therapy, 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
First case of very late-onset FHL2 in Spain with two variants in the PRF1 gene.
Sienes Bailo P et al.
Annals of Clinical Biochemistry, 2023
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis.
Park JE et al.
Frontiers in Pediatrics, 2022
Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature.
Bi SH et al.
World Journal of Clinical Cases, 2021
Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis.
Steen EA et al.
Frontiers in Immunology, 2021
RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Shi Y et al.
Pharmacogenomics and Personalized Medicine, 2021
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.
Viñas-Giménez L et al.
Frontiers in Immunology, 2020
Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis.
Lucchini G et al.
Blood, 2018
Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.
Ono S et al.
International Journal of Hematology, 2018
Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.
Chen X et al.
Clinical Genetics, 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
Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.
Tesi B et al.
Pediatric Blood & Cancer, 2015
[Analysis of clinical phenotype and genetic mutations of a pedigree of familial hemophagocytic lymphohistiocytosis].
Sun S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.
Dias C et al.
European Journal of Human Genetics : Ejhg, 2013
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
Functional impact of A91V mutation of the PRF1 perforin gene.
Martínez-Pomar N et al.
Human Immunology, 2013
Familial Hemophagocytic Lymphohistiocytosis with A665G Perforin Gene Mutation: A Case Report.
Yenicesu I et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2012
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
Zhang K et al.
Blood, 2011
Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imaging.
van Egmond ME et al.
Neuropediatrics, 2011
Failure of interferon gamma to induce the anti-inflammatory interleukin 18 binding protein in familial hemophagocytosis.
Nold-Petry CA et al.
Plos One, 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
Neonatal primary hemophagocytic lymphohistiocytosis in Turkish children.
Gurgey A et al.
Journal of Pediatric Hematology/oncology, 2008
Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations.
Okur H et al.
Leukemia Research, 2008
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
Trizzino A et al.
Journal of Medical Genetics, 2008
Perforin-mediated target-cell death and immune homeostasis.
Voskoboinik I et al.
Nature Reviews. Immunology, 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
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
Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members.
Kogawa K et al.
Blood, 2002