title: First report on familial hemophagocytic lymphohistiocytosis with an abnormal immunophenotype and T cell monoclonality in Korea.
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Sang-Yong
authors.initials: SY
authors.lastname: Shin
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Kyunghoon
authors.initials: K
authors.lastname: Lee
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Mi-Ae
authors.initials: MA
authors.lastname: Jang
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Seung-Tae
authors.initials: ST
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Keon Hee
authors.initials: KH
authors.lastname: Yoo
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Hong Hoe
authors.initials: HH
authors.lastname: Koo
authors.affiliation: Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Dae Shick
authors.initials: DS
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Sun-Hee
authors.initials: SH
authors.lastname: Kim
mesh_terms: D001853:Bone Marrow / Q000378:metabolism / Q000473:pathology; D004252:DNA Mutational Analysis; D015329:Gene Rearrangement, T-Lymphocyte; D006801:Humans; D016130:Immunophenotyping; D007223:Infant; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis*; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D056910:Republic of Korea; D013601:T-Lymphocytes / Q000276:immunology / Q000378:metabolism*
chemical_list: D008565:Membrane Proteins; C507969:UNC13D protein, human