title: Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations.
authors.affiliation: Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
authors.forename: Manar
authors.initials: M
authors.lastname: Abdalgani
authors.affiliation: Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
authors.forename: Alexandra H
authors.initials: AH
authors.lastname: Filipovich
authors.affiliation: Department of Allergy and Immunology, The Royal Children's Hospital, Melbourne, Australia.
authors.forename: Sharon
authors.initials: S
authors.lastname: Choo
authors.affiliation: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
authors.forename: Kejian
authors.initials: K
authors.lastname: Zhang
authors.affiliation: Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
authors.forename: Carrie
authors.initials: C
authors.lastname: Gifford
authors.affiliation: Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
authors.forename: Joyce
authors.initials: J
authors.lastname: Villanueva
authors.affiliation: Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
authors.forename: Jack J
authors.initials: JJ
authors.lastname: Bleesing
authors.affiliation: Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
authors.forename: Rebecca A
authors.initials: RA
authors.lastname: Marsh
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D005434:Flow Cytometry / Q000379:methods*; D005500:Follow-Up Studies; D057166:High-Throughput Screening Assays; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D054353:Perforin / Q000235:genetics / Q000378:metabolism*; D011379:Prognosis; D012372:ROC Curve
chemical_list: C510468:PRF1 protein, human; D054353:Perforin