Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations
Copyright policy )Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations
To the editor: Mutations in PRF1 , which encodes perforin, were discovered to cause familial hemophagocytic lymphohistiocytosis (FHL) in 1999 and account for 20% to 50% of all FHL cases.[1][1][⇓][2][⇓][3][⇓][4][⇓][5]-[6][6] Flow cytometric detection of perforin in peripheral blood natural
- Royal Children's Hospital Australia
- Cincinnati Children's Hospital Medical Center United States
Adult, Male, Adolescent, Perforin, Infant, Newborn, Infant, Middle Aged, Flow Cytometry, Prognosis, Lymphohistiocytosis, Hemophagocytic, High-Throughput Screening Assays, ROC Curve, Child, Preschool, Mutation, Humans, Female, Child, Aged, Follow-Up Studies
Adult, Male, Adolescent, Perforin, Infant, Newborn, Infant, Middle Aged, Flow Cytometry, Prognosis, Lymphohistiocytosis, Hemophagocytic, High-Throughput Screening Assays, ROC Curve, Child, Preschool, Mutation, Humans, Female, Child, Aged, Follow-Up Studies
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