Associated Papers
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 2025
The pore conformation of lymphocyte perforin.
Ivanova ME et al.
Science Advances, 2022
A case of fetal-onset type 3 familial hemophagocytic lymphohistiocytosis surviving without severe complications after early diagnosis and treatment.
Matsumoto T et al.
Pediatric Blood & Cancer, 2021
Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.
Benezech S et al.
Clinical Case Reports, 2017
Association of nonimmune hydrops fetalis with familial hemophagocytic lymphohistiocytosis in identical twin neonates with perforin His222Arg (c665A>G) mutation.
Balta G 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
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
A665G mutation in PRF1 in a Turkish infant with familial hemophagocytic lymphohistiocytosis.
Aslan D
Pediatric Blood & Cancer, 2011
Pathology of the liver in familial hemophagocytic lymphohistiocytosis.
Chen JH et al.
The American Journal of Surgical Pathology, 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
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
Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis.
Vermeulen MJ et al.
European Journal of Medical Genetics, 0