Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G.
10.3343/alm.2017.37.2.162
- Author:
Min Sun KIM
1
;
Young Uk CHO
;
Seongsoo JANG
;
Eul Ju SEO
;
Ho Joon IM
;
Chan Jeoung PARK
Author Information
1. Department of Laboratory Medicine, University of Ulsan, College of Medicine and Asan Medical Center, Seoul, Korea. yucho@amc.seoul.kr
- Publication Type:Case Reports ; Letter
- MeSH:
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
- From:Annals of Laboratory Medicine
2017;37(2):162-165
- CountryRepublic of Korea
- Language:English
-
Abstract:
No abstract available.
