Associated Papers
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 2025
40090000 (PubMed )
Supplement: BLOOD_BLD-2024-027954-mmc2.xlsx › Suppl._table_1
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.
Blincoe A et al.
Journal of Clinical Immunology, 2020
Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.
Benezech S et al.
Clinical Case Reports, 2017
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
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
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