Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G

Ann Lab Med. 2017 Mar;37(2):162-165. doi: 10.3343/alm.2017.37.2.162.

Authors

Min Sun Kim¹, Young Uk Cho², Seongsoo Jang¹, Eul Ju Seo¹, Ho Joon Im³, Chan Jeoung Park¹

Affiliations

¹ Department of Laboratory Medicine, University of Ulsan, College of Medicine and Asan Medical Center, Seoul, Korea.
² Department of Laboratory Medicine, University of Ulsan, College of Medicine and Asan Medical Center, Seoul, Korea. yucho@amc.seoul.kr.
³ Department of Pediatrics, University of Ulsan, College of Medicine and Asan Medical Center, Seoul, Korea.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Asian People / genetics*
Base Sequence
Bone Marrow Cells / cytology
Bone Marrow Cells / pathology
Cytomegalovirus Infections / diagnosis
Epstein-Barr Virus Infections / diagnosis
Female
Flow Cytometry
Heterozygote
Humans
Infant
Killer Cells, Natural / cytology
Killer Cells, Natural / immunology
Lymphohistiocytosis, Hemophagocytic / diagnosis*
Lymphohistiocytosis, Hemophagocytic / genetics
Perforin / genetics*
Phagocytosis
Polymorphism, Single Nucleotide
Republic of Korea
Sequence Analysis, DNA

Substances

PRF1 protein, human
Perforin

Supplementary concepts

Hemophagocytic lymphohistiocytosis, familial, 2