Ann Lab Med.
2017 Mar;37(2):162-165. 10.3343/alm.2017.37.2.162.
Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G
- Affiliations
-
- 1Department of Laboratory Medicine, University of Ulsan, College of Medicine and Asan Medical Center, Seoul, Korea. yucho@amc.seoul.kr
- 2Department of Pediatrics, University of Ulsan, College of Medicine and Asan Medical Center, Seoul, Korea.
- KMID: 2373636
- DOI: http://doi.org/10.3343/alm.2017.37.2.162
Abstract
- No abstract available.
MeSH Terms
-
Asian Continental Ancestry Group/*genetics
Base Sequence
Bone Marrow Cells/cytology/pathology
Cytomegalovirus Infections/diagnosis
Epstein-Barr Virus Infections/diagnosis
Female
Flow Cytometry
Heterozygote
Humans
Infant
Killer Cells, Natural/cytology/immunology
Lymphohistiocytosis, Hemophagocytic/*diagnosis/genetics
Perforin/*genetics
Phagocytosis
Polymorphism, Single Nucleotide
Republic of Korea
Sequence Analysis, DNA
Perforin
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