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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 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
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B et al.
Journal of Clinical Immunology, 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
[Clinical characteristics of primary hemophagocytic lymphohistiocytosis associated with perforin gene deficiency: a single-center retrospective study].
Yu MZ et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2023
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
Neonatal familial hemophagocytic lymphohistiocytosis diagnosed with ultrarapid whole-genome sequencing.
Greenmyer JR et al.
Pediatric Blood & Cancer, 2023
Case Report: Successful avoidance of etoposide for primary hemophagocytic lymphohistiocytosis-induced multiple organ dysfunction syndrome using emapalumab.
Hahn TJ et al.
Frontiers in Pediatrics, 2023
Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis.
Ahmari AA et al.
Blood Research, 2021
A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2.
Saettini F et al.
Pediatric Hematology and Oncology, 2021
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.
Bakouny Z et al.
Nature Communications, 2021
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Botto LD et al.
American Journal of Medical Genetics. Part A, 2021
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
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.
Tedaldi G et al.
Cancers, 2019
To Transplant or Not to Transplant? Late-Onset Primary HLH in a Patient: A Case Report and Review of Literature.
Ashok V et al.
Journal of Pediatric Hematology/oncology, 2019
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
Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.
Benezech S et al.
Clinical Case Reports, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.
Gao L et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 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
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Tesi B et al.
Genome Medicine, 2015
Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.
Tesi B et al.
Pediatric Blood & Cancer, 2015
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) patients in India.
Mhatre S et al.
Blood Cells, Molecules & Diseases, 2015
Hemophagocytic lymphohistiocytosis associated with parechovirus 3 infection.
Aviner S 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
Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood.
Wang Y et al.
Plos One, 2014
Recurrent macrophage activation syndrome associated with heterozygous perforin W374X gene mutation in a child with systemic juvenile idiopathic arthritis.
Unal S et al.
Journal of Pediatric Hematology/oncology, 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
Hemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesis.
Rosado FG et al.
American Journal of Clinical Pathology, 2013
Adult onset of primary hemophagocytic syndrome in subjects carrying PRF1 mutations.
Wang Y et al.
Annals of Hematology, 2012
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
[A case report of adult onset of primary hemophagocytic syndrome with literature review].
Wang YN et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2012
Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management.
Gholam C et al.
Clinical and Experimental Immunology, 2011
Niemann - Pick disease associated with hemophagocytic syndrome.
Karaman S et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2010
Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation.
Balta G et al.
Leukemia Research, 2010
Neonatal liver failure and haemophagocytic lymphohistiocytosis caused by a new perforin mutation.
Danhaive O et al.
Acta Paediatrica (oslo, Norway : 1992), 2010
Perforin deficiency and susceptibility to cancer.
Brennan AJ et al.
Cell Death and Differentiation, 2010
Molecular basis of familial hemophagocytic lymphohistiocytosis.
Cetica V et al.
Haematologica, 2010
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.
zur Stadt U et al.
American Journal of Human Genetics, 2009
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
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.
Horne A et al.
British Journal of Haematology, 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