title: Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G.
authors.affiliation: Department of Laboratory Medicine, University of Ulsan, College of Medicine and Asan Medical Center, Seoul, Korea.
authors.forename: Min Sun
authors.initials: MS
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, University of Ulsan, College of Medicine and Asan Medical Center, Seoul, Korea. yucho@amc.seoul.kr.
authors.forename: Young Uk
authors.initials: YU
authors.lastname: Cho
authors.affiliation: Department of Laboratory Medicine, University of Ulsan, College of Medicine and Asan Medical Center, Seoul, Korea.
authors.forename: Seongsoo
authors.initials: S
authors.lastname: Jang
authors.affiliation: Department of Laboratory Medicine, University of Ulsan, College of Medicine and Asan Medical Center, Seoul, Korea.
authors.forename: Eul Ju
authors.initials: EJ
authors.lastname: Seo
authors.affiliation: Department of Pediatrics, University of Ulsan, College of Medicine and Asan Medical Center, Seoul, Korea.
authors.forename: Ho Joon
authors.initials: HJ
authors.lastname: Im
authors.affiliation: Department of Laboratory Medicine, University of Ulsan, College of Medicine and Asan Medical Center, Seoul, Korea.
authors.forename: Chan Jeoung
authors.initials: CJ
authors.lastname: Park
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D001854:Bone Marrow Cells / Q000166:cytology / Q000473:pathology; D003586:Cytomegalovirus Infections / Q000175:diagnosis; D020031:Epstein-Barr Virus Infections / Q000175:diagnosis; D005260:Female; D005434:Flow Cytometry; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007694:Killer Cells, Natural / Q000166:cytology / Q000276:immunology; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000235:genetics; D054353:Perforin / Q000235:genetics*; D010587:Phagocytosis; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea; D017422:Sequence Analysis, DNA
chemical_list: C510468:PRF1 protein, human; D054353:Perforin